Category: Genetics

Abstract

This paper discusses the influence of genetic factors on speech encoding at the subcortical level. In particular, it focuses on the effects of the serotonin transporter gene. The discussion of the whole topic is briefly outlined. The findings obtained by the authors are pointed out along with the methods used to receive and analyze related information. Finally, the authors contribution to the field is considered, and questions for future research are outlined.

Introduction

Peoples success in music and foreign languages depends significantly on their capacity to perceive sounds and speech. The better the neural representation of the sound signal is, the better results are likely to be achieved (Ansari & Rangasayee, 2016). Thus, high quality of encoding of acoustic features is vital for everyone, and the subcortical auditory system is believed to ensure it.

The inferior colliculus (IC) is the main sound center that receives major serotonergic innervation, which allows presupposing that serotonin [5- hydroxytryptamine (5-HT)] is crucial for the modulation of information processing in the ascending auditory pathway (Selinger, Zarnowiec, Via, Clemente, & Escera, 2016, p. 10783). In this way, serotonin can change the peculiarities of the neural response to the perceived sound. In particular, it affects the number, latency, and precision of spikes and the timing of their trains. Thus, it can be stated that serotonin affects the response and encoding of sensory stimuli.

Purpose of the Study

As the authors emphasize the value of serotonin for the accurate subcortical speech encoding, they also pay attention to the serotonin transporter [5-HT transporter (5-HTT)]. It is believed to regulate the availability of serotonin, which proves that its functioning can affect the whole process of encoding, defining peoples auditory capacity. In this way, the serotonin transporter gene is likely to be involved in multiple functions. Based on this information, the authors developed a hypothesis of its involvement in subcortical auditory processing. All in all, Selinger et al. (2016) wanted to find out if the 5-HTT linked polymorphic region (5-HTTLPR) is involved in speech encoding at subcortical stages (p. 10783).

Questions Addressed in the Reviewed Paper

In the framework of their research, Selinger et al. (2016) addressed several questions to reveal how the serotonin transporter gene influences the accuracy of subcortical speech encoding. First of all, they revealed their interest in the normal frequency following response (FFR) and cortical responses to the presentation of a syllable /ba/ on the background of a speech bubble. In addition to that, they were interested in the different levels of serotonin transporter expression. The authors also wondered how they are connected with the allelic variation of the 5-HTTLPR. They were interested in the meaning of the higher and lower signal-to-noise ratio (SNR). Selinger et al. (2016) investigated how the periodic response signal differed from its time-shifted part. They were interested in the characteristics of long-latency auditory-evoked potentials. The authors found out the grand average FFRs for responses. The influence of alterations in the consonant-vowel transition and language or musical training was questioned. In addition to that, they wondered if the timing features of stimulus onset asynchrony (SOA) affected sound encoding significantly. All in all, answers to these questions and further analysis of the received data provided the researchers with an opportunity to discuss the influence of the serotonin transportation gene.

Methodology

A quantitative research study was conducted including a sample of 79 young adults who were mostly psychology students. All of them were from 18 to 31 years old. The majority of participants were females (59 individuals). The authors used opportunistic sampling to gather them, as they represent a part of volunteers who agreed to be engaged in a clinical interview. This selection was not maintained randomly, and the sample remained limited because of the initially identified group of people. In this way, the inclusion criteria were the previous participation in the interview and normal vision and audition. The exclusion criteria were diagnosed with neurological and psychiatric illnesses and drug intake. As a result, 21 individuals did not participate. The representatives of the sample received compensation and gave their informed consent. The research study was approved, and the participants anonymity was ensured.

Buccal cell cheek swabs were used to extract DNA and identify short (S) and long (L) alleles for genetic variants of the SLC6A4 gene. PCR amplification, digestion with the restriction enzyme Mspl, and migration in an agarose gel were used to identify the 5-HTTLPR and A/G single nucleotide polymorphism (SNP) (Selinger et al., 2016, p. 10784). Based on their genotypes, participants were divided into three groups: those who have low, medium, and high levels of 5-PEE expression.

The Klatt speech synthesizer was used to generate a syllable the brainstem responses to which was collected. Stimuli lasted for 170ms. It was repeated five times using different frequencies. To make the laboratory environment more similar to the real one, speech babble was played in the background. SOA was present at the beginning of the syllable presentation. Randomly, some participants listened to constant SOA and others to jittered one. EEG recordings were made to gather data regarding responses. The electrooculogram (EOG) was also considered.

EEGlab version 7 toolbox was used to analyze data. With the help of component analysis, the signal activity was obtained. The second-order blind identification algorithm was used to identify components in reactions, and the SNR was used to calculate them. Further, responses were averaged.

Key Findings

The main findings of the research study conducted by Selinger et al. (2016) are that individuals with lower serotonin transporter expression, compared with individuals with medium to high expression had higher signal-to-noise ratios in the frequency following response to the vowel of the syllable (/ba/), as well as higher pitch strength for their subcortical neuronal responses, both pointing toward a sharper speech signal extraction in the subcortical auditory pathway (p. 10787). The authors claim that the 5-HTTLPR affects the quality of speech encoding. It becomes more robust and accurate already at subcortical stages. In this way, they also believe that the HTTLPR can determine the extent of experiences influences on the subcortical auditory pathway. In particular, both its structure and function can be affected. Unfortunately, the authors failed to identify whether the HTTLPR manages to be rather influential only due to peoples genetic predisposition or its combination with other genes and experiences matters. Even though the researchers have divided the sample into the low-, medium- high-expressing groups, differences in results between them were not critical enough to consider them. Nevertheless, they believed that low 5-HTT is a benefit for those individuals who are occupied in music or/and languages.

It is also interesting that the time spent under the influence of musical training did not provide any significant difference in the SNR. Thus, even though this experience is considered to be extremely beneficial for the representatives of the general public and their ability of speech encoding, it is not critical for the study and its outcomes. The authors also indicated that the alterations of the pitch strength did not provide any important influence on the research results. The authors emphasize the connection between 5-HTT and neural representation but underline the necessity to interpret the obtained findings with caution.

Role of the New Study

Neurophysiology discusses the way the human nervous system functions, and responses to various sounds are also considered by it. A lot of professionals have already paid attention to the encoding of speech sounds, including Cooper, Brouwer, and Bradlow (2015) for instance. They emphasize the fact that is accuracy plays an enormous role in human communication because it determines their capacity to understand one another. The researchers identified that this process takes place in the subcortical auditory nervous system (Bellier, Bouchet, Jeanvoine, Valentin, & Thai-Van, 2015). If a person has some disorders connected with encoding through hearing or speaking, one is proved to have altered speech and auditory processing. Nevertheless, researchers underline that the ability of encoding is not static. It can be improved with time due to the hard work associated with language and music experience (Krizman, Marian, Shook, Skoe, & Kraus, 2012; Schoof & Rosen, 2016). As a result, it can be concluded that the influence of developmental changes and the environment affects speech encoding significantly.

However, there is also an assumption that peoples capacity to perceive sounds is associated with genetics. Even though several research studies were conducted to reveal this connection, the role of genetic factors in speech encoding is not properly discussed yet. Nevertheless, Selinger et al. (2016) reveal their interest in this unresolved topic. In their article, the authors focus on the serotonin transporter gene and its involvement in speech encoding. Professionals manage to identify their polymorphism and association with the high-quality neural tracking of speech stimuli. In this way, the authors conclude that 5-HTT can limit the influence of peoples experiences (such as those associated with language and music) on the subcortical encoding of speech. However, they also point out that this eventual effect can be provided only in combination with polymorphisms.

In addition to that, Selinger et al. (2016) indicate that the previous studies they used as the basis of their research have already emphasized that serotonin plays a critical role in the auditory perception. However, the value of the 5-HTTLPR for language and music perception was not pointed out (Krizman et al., 2012). Its functions at subcortical stages remained unrevealed, as well as the association between generics and auditory processing. Nevertheless, the connection between auditory and some psychiatric disorders and serotonin was discussed by other professionals. This knowledge was used for exclusive criteria when collecting the sample for the study. All these links were aligned with auditory processing at the cortex while the subcortical area remained uninvolved (Bellier et al., 2015). Similarly, the implication of the 5-HTTLPR in speech encoding has not been considered. Only the impact of serotonin on auditory processing in the IC received enough attention from the researchers. This neuromodulator was said to affect the brain response to auditory stimuli.

Alternative Explanations for the Conclusions

In many cases, the application of serotonin suppressed the amplitude of responses, which provided the authors with the opportunity to presuppose that it leads to another clear response and the decrease of the representation of noise. However, previous studies do not provide an opportunity to make any claims regarding this issue, because their findings remain rather vague. There is a possibility that the outlined outcomes are just spontaneous activities that happen in some humans but are not generally observed. Thus, there is a possibility that the conclusions made by researchers cannot be generalized and can be applied only to particular populations. Moreover, it was revealed that peoples responses at the cortical level do not differ in two groups. On the one hand, there is a possibility that the effects of 5-HTT can be observed only at the subcortical level, and the authors of the article have accepted this idea. However, on the other hand, it is possible that genetic influences on the 5-HTT expression are not that critical to consider them along with the extraction of cortical potentials. Individual subcortical differences may be observed even without the effects of 5-HTT. They can be developed based on purely environmental factors or condition of their combination with genetic ones, as subcortical processing of sound can be changed under the influence of peoples experience and training. Thus, it is vital to take into consideration the fact that the authors of the discussed article based their research on the layering hypothesis, according to which, both cortical and subcortical processing can be affected by previous experiences and have altered auditory functions.

Questions to Be Discussed

For now, the topic lacks well-grounded information and facts that is why it would be advantageous to conduct additional research studies that discuss associated questions. The authors reveal that 5-HTTLPR can influence the quality of speech encoding. However, the scope of this impact is not yet revealed. In this way, it would be beneficial to conduct a study that discloses this aspect of speech encoding. In addition to that, both previous and recent studies fail to discuss the role of other genes and environmental factors, as only some of them have been already considered by researchers. Moreover, the focus can be made on the early developmental stage of the accuracy of encoding. In particular, attention should be paid to the way people with genetic difficulties for auditory processing. The extent to which their condition can be improved due to music and language training should be discussed.

Thus, it cannot be denied that Selinger et al. (2016) made an enormous contribution to the field of neurophysiology with the help of their research. Even though it was based on assumptions and hypotheses, the authors managed to reach a clear conclusion that provides an opportunity to discuss this topic further. The professionals did not prove the value of purely genetic factors involved in the speech encoding, but their impact in combination with experiences and training cannot be denied. Moreover, they indicate that every person might have a possibility to affect his/her genetic expression with the help of plasticity that depends on experience. In this way, a step forward to the understanding of speech encoding at cortical and subcortical levels is made.

References

Ansari, M., & Rangasayee, R. (2016). Construction of Hindi speech stimuli for eliciting auditory brainstem responses. Indian Journal of Otolaryngology & Head and Neck Surgery, 68(4), 496-507.

Bellier, L., Bouchet, P., Jeanvoine, A., Valentin, O., & Thai-Van, H. (2015). Topographic recordings of auditory evoked potentials to speech: Subcortical and cortical responses. Psychophysiology, 52(4), 594-599.

Cooper, A., Brouwer, S., & Bradlow, A. (2015). Interdependent processing and encoding of speech and concurrent background noise. Attention, Perception, and Psychophysics, 77(4), 1342-1357.

Krizman, J., Marian, V. Shook, A., Skoe, E., & Kraus, N. (2012). Subcortical encoding of sound is enhanced in bilinguals and relates to executive function advantages. Proceedings of the National Academy of Sciences of the United States of America, 109(20), 7877.

Schoof, T., & Rosen, S. (2016). The role of age-related declines in subcortical auditory processing in speech perception in noise. Journal of the Association for Research in Otolaryngology, 17(5), 441-460.

Selinger, L., Zarnowiec, K., Via, M., Clemente, I., & Escera, C. (2016). Involvement of the serotonin transporter gene in accurate subcortical speech encoding. The Journal of Neuroscience, 36(42), 1078210790.

Introduction

Diverse scientific studies have established that Watching Television has a Huge Genetic Influence. The argument posits that the manner individuals behave or carry themselves could be partly allied to watching television. Therefore, it becomes imperative to explore how TV watching can have such a phenomenon on individual genes. More so, it is essential to understand that genetics plays a fundamental role in shaping our individual personality.

The general area to be studied

Considering the multiple effects of TV watching on our lifes, it would be instrumental to explore and determine the manner watching TV influences our genes. The purpose of examining this quarter would help us in understanding how TV watching is linked to the genes. A number of scholarly studies have established that TV could be disastrous on our brains. However, no consistent studies have ever been conducted to establish the relationship between the effects of TV watching with the human genes (McAdams, 2006).

Why this area is important to the general area under study

The reason why this area is paramount to the study can be allied to the fact that genes play a crucial role in our bodies. Therefore, any element or factors influencing our genes ought to be taken seriously. For instance, established studies have demonstrated that TV watching has contributed to obesity in children as well as instances of ADHD. Therefore, exploring this aspect would be instrumental in understanding the connection between TV watching and the manner it influences genes.

Research problem

Why Watching Television has a Huge Genetic Influence. As a matter of fact in our contemporarily society TV watching has become the norm. The growth and progression of IT has made it possible for individuals to access TV from very tender age. Thus it becomes pertinent to examine the impact of watching TV on genetics. The purpose would involve establishing if any links exists between watching TV and our genetics.

The background to the research problem

From the physiological point of both normal and abnormal genetic traits are known to be highly inheritable. However, the emergence of pop-culture where TV watching has become a way of life to many investigating the impact TV on genetics becomes paramount. Therefore, this point to the fact that many individuals are exposing a number of genetic related features allied to TV watching. In this regard it becomes paramount to examine why watching TV has a huge genetic influence on individuals. According to the recent studies it was found that the longer an individual gets exposed to the TV the greater the chances are for one to be affected. Considering genetic aspects are more allied to biological and physiological perspective, it becomes essential to note their impacts (Funder, 2005).

State your research questions

why Watching Television has a Huge Genetic Influence, what causes this phenomenon. Does the genetic influence affect how the affected individual interact socially, does it also impinge on them emotionally. How does this happen.

Justifying the proposed study

In essence, animals as well as humans are born with innate instincts to carry out adaptive activities. These in-built instincts do include countless reflexes which are considerably straightforward activities such as looking for food. However, there are adaptive attributes which goes beyond the accepted human standard. And these are the elements we classify as animal instincts due to their genetic features.

Issues that emerge from the research problem

Some emerging issues from the research problem illustrates that due to biological interferences genes do develop diverse patterns pertaining to individual behavior. Too, genetic aspects or traits are environmentally influenced. Therefore, the scope of watching TV raises a number of questions on how this can influence our genes.

Rationale: Explain how these research questions are related to the larger issues raised in the introduction

Exploring the dynamics of genetics it becomes essential to understand that the research questions are related to the research question. This can be testified by the manner the research question correlates to the dynamics of examining why watching TV has such a huge influence on genetics. As the introduction had asserted earlier genetics have a considerable role in shaping our personality.

Describing what specific claim, hypothesis, and/or model of psycholinguistics used to evaluate with these questions

There are diverse theories that have over the time been flouted by both social scholars and behavior geneticists.using the scope of both qualitative approaches in regard to behavioral hypothesis it would be prudence to assert that influences on genetics can only be determined from a scientific perspective. By using the parameters defined within the scope of qualitative approach, the question of why watching TV has such huge influence on genetics is examined. Hence, in such a situation in this study we investigate the claim by combining both the scope of qualitative and quantitative approaches to investigate the claim.

Explain what it will show about the psychology of language if your hypothesis is confirmed

The premise that watching TV has huge influence on genetics presents a strong case in understanding the dynamics of behavioral activities. Considering the fact that TV watching is both a vocational or occupational aspect, thus the psychology of the language would reflect the evaluations posited under the premise of natural selection. Thus if the hypothesis is confirmed it would emerge that the claim is more of behavioral concern which is a product of external forces.

Explain what it will suggest about the psychology of language if your hypothesis is disconfirmed

Diverse premises have over the period been developed in regard to behavioral genetics. Considering our research question, if the premise is disconfirmed it would emerge that the premise of watching TV as having effect on genetics would be seen to be a farce. Therefore, it is in this respect that this question would suggest that the only viable premise would rest on the biological approach to the claim (Ornstein 2004).

Background

The premise that watching TV has a huge influence on genetics has over been the time questioned by a number of both behavioral and biological scholars. The objectives of their constant questions can be attributed to the fact that TV watching is a modern phenomenon which is credited with social evolutions. Therefore from such an observations Burger (2006) noted that adaptive coefficients do not necessarily determine how a given factor will influence the genetics. However, in regard to evolution theory a number of correlated factors have been examined in regard to the premise of watching TV influencing the genetics. Hence, according to Ridley (2005) the premise could hold due to the fact that most TV addicts have been established to suffer from bipolar disorders which are highly linked to negative influences on genetics.

Conclusion

The scope of exploring the genetics offers a credible insight into the factors that influences genetics. Some of the core factors are associated with chemicals, radiation as well as environmental and biological factors. In such a candid examination watching TV has never been considered as core external factor that can influence genetics. Thought watching has a considerable impact on behavioral perspective, no solid record or examination has ever been established supporting the premise. However, in regard to the changing lifestyles as well as the premises of evolutionary perspectives the hypothesis could hold a considerable truth.

Method and Design

In the course of this study we anticipate to undertake the following procedures in regard to the group;

The teams Hypotheses, research design, and methodology. These features would be instrumentally tied to methods as well as procedures of determining if in reality watching TV has the claimed influence on genetics. This involved exploring detailed information including establishing the steps to be followed in our preferred methodology. In this regard we employed the concepts of experimental design which is an effective research design (Ornstein, 2004). This concept is commonly employed by sociologists. The importance of this approach is that it allows the researchers to determine the apposite experimental groups as well as the manner the team control the subject under research.

Hence, exploring the background of the study question, the issue of influence on genetics becomes crucial. This can be allied to the fact that environmental factors have been known to play a persistent role in increasing influences on genetics. Therefore, the question why watching TV has a huge genetic influence becomes a paramount. It should be noted that there are diverse elements which influences genetics. However, watching tv has become one of the modern elements that have been cited to influence genes considerably. Therefore, exploring the environmental as well as social aspects the subject of study becomes essential in shedding light on the manner individuals have been affected by diverse aspects connected to TV watching.

Method

The methodology would entail exploiting the dynamics of experimental design. This methodology would involve gathering data from dissimilar sources. This approach entails gathering data or information from a controlled source. Therefore, to have a definite picture of what we are to investigate we had to establish the parameters of collecting the apposite data. This involved having a control group and experimental group. Each category is subject to be reviewed before and after the analysis.

The following diagram would be essential in collecting and controlling the information:

The exploitation of this approach mandates that all the involved subjects to be treated fairly and equally in all aspects except for one unique variable-race. Therefore, it would be essential to note that both controls with the experimental groups are to be placed in similar circumstances, except where the subjects were exposed different conditions despite watching TV. Hence, the probable variables in both groups would be anticipated to be the same, any alteration would be featured as a consequence of the sole variable-race. The data for this methodology would be gathered empirical information by using systematic observations. This would involve selection of the subjects through the procedure of randomization. That is, we place partakers into groups by likelihood, to a certain extent than by various techniques which may prejudice the results. In order to test the hypothesis experimental design was assumed to be the most apposite methodology. This procedure entailed employing the use of empirical information in order to determine the variables. Equally, this method is most apposite for the suggested study due to the manner it aids in providing identical results after the conducting both control and experimental tests.

Participants

The preferred participants would entail examine both young and old TV viewers who have been exposed to the TV for quite sometime. The group would also embrace other participants who are not exposed to watching TV but other form of media. This would help in establishing a viable experimental and control variances. Also the participants would be harvested from all walks of life as well as diverse social and economic backgrounds.

However, the sample test would include having the subjects who have been identified to have genetic effects presumed to be caused by watching TV. Also this would also comprises subjects chosen by chance from all age groups, sex, as well as socio-economic backgrounds. The objective of this procedure would be to establish if their exists any constancy in the premise investigated. Therefore, the majority of the participants must be avid TV addicts this is essential in establishing the right approach to the study. However, the blind and the underage participants would be excluded. But those subjects who are addicted to computer games, and videos would be included.

Design

In essence there are typically three major procedures of research processes; descriptive, correlational and experimental. However, experimental method would be the only procedure that would employ to determine the aspects of cause and effect correlation. This is linked to the fact while the fundamentals of methodology exploited rests on the premises of quantitative and qualitative approaches. These features allowed the team to utilize both the available and secondary data apposite for the research. It ought to be noted that the methodology involved employing such diverse tools as interviews, case studies as well as the use of questionnaires in order to collect sufficient data without being biased (Phares, 2007). This is well illustrated by the teams hypothesis which explored the premise watching TV has huge influence on genetics (Burger,2006). Therefore, using both subjective and qualitative information the team managed to explore the weaknesses and the strongholds of the hypothesis.

Procedure

The approach would entail employing the use of data collecting tools to evaluate the involved subjects. Therefore, this thus would entail identifying the experimental group as well as the control subjects. Though the process may prove to be quite tricky but it will entail collecting the required information from sociologist and behavioral experts. more so, this would be evaluated through the scope of using both aspects of positive and negative correlations. This would help in evaluating the apposite variables. This is due to the fact that genes play a pertinent role in our lives as individuals. Their alterations also cause a number of physical and emotional effects (Funder,2005). Thus drawing a line between the effects of watching TV and factors that influence our genes would be essential. It ought to be noted that the effects on genes are highly shown physically. Therefore, identifying how the TV influences our genes would be instrumental. On the other hand understanding the process by which these influences impacts on the genes would also be of great significance in our study. Thus we should be in a position to pinpoint the physical signs allied to effects of TV watching. Though, most scholars have provided diverse opinions on the consequences of watching TV the scope of genetic influence has never been examined as such. Therefore, by attempting to examine the influence watching could have on our genes is essential. Thus the most important aspect would be to identify how watching TV influences our genes and how this process can be seen to be effective. The subjects are thus expected to exposes the effects of watching tv either on bodily context or emotional. This would involve examining the subjects physique as well as mental functionality.

Data Analysis

In essence, the significance of this study can not be ignored. Considering that fact that a number of individuals are exposed to watching tv in one way or the other it becomes crucial to examine the impact this has on their genetics. More so, another factor would entail establishing if the genetic manipulation caused by TV watching leads to criminal mentality or not. Therefore, there are being examined thus is essential. It should be noted that among the e have been growing. The discussions have been revolving around the premise of whether genetic influence and how they impact on and shape individual mind. Unlike physiological aspects which are inheritable, the effect coming from watching TV would in this case be explored to gauge if they can be inheritable and the consequences they may have on the individual as well as the society. Therefore, the data analysis would involve examine statistical, empirical as well as the quantitative and qualintitative data gathered. The procedure would entail employing the dynamics of experimental design as well as the procedures of correlation in order to ascertain the variables effectively.

The positive variation which would not alter the variances would be considered as the apposite results for confirming the hypothesis. However, if one of the other variance causes any alterations this would be considered a negative result. Therefore, exploring the concepts examined it becomes instrumental to realize that the research questions bonds compactly with the issues reflected in the introduction. Therefore, the effect of watching TV could thus be said to be defined as either vocational or occupational.

In this regard, it is imperative to realize concerning complex animal as a human become the issue of genetics being influenced by external factors becomes very paramount. Thus, looking at the core of the research question in regard to the aspects provided in the introduction, it emerges that any influence on genetics determines or affects individual perspective in regard to either shared environment or accumulative society. In this regard the research question in regard to the greater issues explored in the introduction do hold together.

Significance and conclusion

The results of the proposed research reflect the need to undertake further research in the given premise. The reason behind such understanding can be linked to the fact that previous studies were inadequate (McAdams, 2006). Equally, by reflecting on the current results there is a dire need to establish and confirm that that premise holds true. Consider the fact that no scientific studies have ever established the existence of genes correlated to TV watching. Therefore to refute or sustain such allegations it would be essential to develop profound parameters of furthering the research. As per the image presented by the results it can be argued that external factors such as shared environment as well as additive social procedures have played a role in influencing the genetic procedures. However, regarding the concern of watching TV much has to be explored in terms of biological, sociological as well as behavioral perspective. Therefore, lack of adequate information in regard to influence of tv watching on genetics ought to be addressed from either behavioral or biological perspective. This can be linked to the fact that genetics plays a prominent role in shaping our personalities. More so, the manner we establish ourselves as individuals is in a way determined by our inherited genes which forms our innate instincts as human beings (Ridley, 2005).

Therefore, the results illustrates that the significance of any influence on genetics can be attributed to such variances as radiation, chemical or biological factors.

Budget outline

• The team requires an estimated total of $ 18,000 to carry out the research described above. The considerable ratio of the funds is anticipated to go toward the interviews which are in nature time consuming.
• This will involve the teams personnel conducting as well as analyzing over 100 interviews.
• Therefore, this would thus include considerable compensations for sub-contractors who are anticipated to be involved in conducting oversee interviews, support for the team members undertaking primary investigations as well as the a course release for the leading researcher.
• The lead researcher is expected to be responsible and accountable for a successful completion of the study. The primary investigators will be funded to conduct local interviews, along with other team members. This will also involve analyze the information gathered in the course of the interviews or case studies.

References

Burger, J. M. (2006). Personality (3rd Ed.) Pacific Grove, CA: Brooks/Cole.

Funder, D. C. (2005). The personality puzzle. New York: W. W. Norton.

McAdams, D. P. (2006). The person. Orlando, FL: Harcourt Brace.

Ornstein, R. (2004). The Roots of the Self. New York: Harper.

Phares, J.E. (2007). Introduction to Personality. New York: Harper Collins.

Ridley, M. (2005). Genome: The autobiography of a species. London: Fourth Estate.

The advent of biotechnology and genetic engineering has offered entirely new opportunities to scientists but it has also imposed new ecological and ethical standards. There is a widely held opinion that science, itself, should not be interpreted from moral perspective, because it seeks only knowledge, yet the events of the twentieth century have proved that some inventions or discoveries may be used for rather unworthy purposes, moreover, the consequences may often be unpredictable. While conducting any research in biotechnology, it is of crucial importance to follow environmental safeguards. If I were engaged in this activity, I would first think about long-term effects.

We may take for instance, the cultivation of new agricultural species, resistant to plant viruses or temperature drops. At first glance, this idea of plant, capable of growing in all circumstances, seems almost fascinating. Yet, it should be borne in mind that such species often adversely affect some animals or even lead to their extinction (Chirikjian, 1996, p 44). Overall, in such case, I would first adhere to the principle of non-maleficence, which means do not harm.

Apart from that, there are some experiments that cannot be ethically justified, at least in my opinion, for example, the cloning of human being or the attempts to find the gene for genius. It is very unlikely that such experiments will yield any results. In my belief, scientists should not play the role of God or of nature. In the overwhelming majority of cases, such games end in horrible calamities.

Famines may be causes by a great number of factors, and very often it is extremely difficult to determine, which of them is the most crucial. Sometimes, severe shortages of food are ascribed to environmental forces, such as for example, failure of crops, adverse weather conditions, droughts, and so on. However, it appears that sometimes famines may stem from the peoples actions or inaction. In order to substantiate this hypothesis, we should refer to the history, for instance, the Famine in Ireland, also known as Black Death, and the notorious Holodomor in the Soviet Union. Overall, it is quite possible for us to say that both these tragedies could have been averted. In the first case, the British government should have acted immediately. It was necessary to provide people with food supplies, but the officials decided to there had been no danger of people.

As for the famine in the Soviet Union, we may say that it was artificially and deliberately created to subdue peasants, who were resisting the governments reforms. Fortunately, such examples are not numerous. Additionally, we should not forget about the negative impacts of human activities are not always noticeable. For instance, in many countries, agricultural techniques have become dated long ago; however, the farmers still continue to employ them (Curtis, 1998, p 73). The fertilizers, used in such countries as Ethiopia or Sudan are not ineffective and even dangerous, but the farmers often have no alternative. Certainly, one can hardly propose some remedy because much depends upon the circumstances, but probably people should not blame only nature for all their misfortunes.

Jimmy Carter, the former president of the United States once made the following statement, Responsible biotechnology is not the enemy; starvation is. This argument can be interpreted from various perspectives. Perhaps, the famous political leader did not want people to look at biotechnology and genetic engineering with uncertainty or even apprehension. The main problem is that even now some rather conservative individuals suggest that the experiments in this field should be strictly prohibited, because they allegedly cause harm to people (especially future generations) and the environment.

In point of fact, such belief is not sufficiently grounded, because at this moment there is no conclusive evidence, indicating that agricultural biotechnology may lead to some genetic changes in the body of a human being. The major idea that Jimmy Carter wants to advance is that genetic engineering and biotechnology are just instruments or tools in our hands. Our main task is to use them effectively. The knowledge, itself, may serve both noble and viscous ends, and the outcome is determined by those, who possess this knowledge. Sometimes, we say that some scientific discoveries should have never been made.

Ironically, science aims to help humankind but now we become more and more afraid of it. It is hardly possible for me to disagree with Jimmy Carter; however, I would like to point out some very important detail, which must not go disregarded. The achievements of modern science must not belong to people who set only commercial goals. Occasionally, they are in the hands of some unscrupulous individual, who pursue only profit. They are not genuinely concerned with the well-being of people, who may be dying from starvation at every second. Under some circumstances, they conceal their true motives under very noble pretexts, but the only thing they hanker for is money.

Prior to answering the question, whether it is possible to be absolutely health or not, we should first, discuss such concept as health, because it is multidimensional and we can hardly give clear and concise definition of this concept. Certainly, according to a popular belief it denotes the state of being vigorous and free from disease. But in my opinion, such interpretation does not fully reflect all the complexity of this question. First and foremost, the concept of health is highly subjective. According to psychologists there are some people, who suffer from some terminal disease, but even despite this fact they consider themselves healthy.

They are so firmly convinced of their rectitude that medical workers experience significant difficulties, dealing with these patients. Thus, we may say that on a perceptual level a person may feel absolutely sound but certainly it is just a dangerous delusion, self-deception that may give rise to severe complications

Furthermore, it is worth mentioning that even such as notion as disease is very ambiguous. Any pathology or deviation from normal physiological and psychological function is usually termed as a disease. But it should be taken into account that we have not studied all the peculiarities of the human. Overall, it seems that only a very optimistic person can state that he or she is absolutely healthy. Constant stresses and catastrophic ecological situation are not those factors, contributing to physiological and mental well-being of the society.

A great number of people, living in such states as the United States, Canada or the United Kingdom, are inclined to use such rather offensive phrase as the third world or even underdeveloped countries. Judging from the situation, which has recently emerged, we may say that these two worlds are estranged from each other. In order to substantiate this question, we can discuss such issue as global health. It would not be an exaggeration to say that in some regions people have to survive in almost insanitary conditions. Probably, I make a far-fetched argument but this insanitation seems to me the root cause of many contagious diseases, such as for instance AIDS.

The tragedy is that international community turns a blind eye and a deaf ear to this problem. Naturally, it is impermissible to disregard all the efforts of the Red Cross or some other charitable organizations, but this assistance is clearly insufficient. In my opinion, the governments in some developed countries are just trying to pretend that they are genuinely concerned with the global health. Such short-term policy is bound to have rather detrimental consequences, which have already become conspicuous. For example, we may mention immigrants who are virtually fleeing Africa due to several reasons (insanitation inclusive).

Moreover, we are in constant fear that the epidemic of some unknown disease is about to break out. As it has been noted before, developed nations want to segregate themselves developing ones, but it is no longer possible because the twentieth century is the age of globalization, which sets entirely new standards. Therefore, problem of one country may easily manifest itself in other regions. However, some politicians have not realized this self-evident fact.

There is a widely held opinion that natural chemicals are safe whereas industrial or artificial ones are dangerous and we should not use them. It seems that this belief is not based on true facts, and sometimes such firm conviction results in very adverse consequences. Every substance can be either remedy or poison, and natural chemicals are not an exception to this rule. In part, such hypothesis stems from the assumption that nature does not create anything, which may pose threat to the health of a person. It is hardly possible to agree with this argument because, in the overwhelming majority of cases, the effect of any chemical is determined by the dose, even the most useful vitamins may do harm if they are in excess.

Medical workers argue that such false belief puts practically insurmountable obstacles for them. There are some patients, who are very reluctant to turn for professional assistance; they usually give preference to the so-called folk medicine. According to them, it is much more efficient that the conventional one. Occasionally, this rather impudent behavior imperils health and even lives of these people though they are not even aware of being in grave hazard.

There is another problem, caused by such belief. Some unscrupulous individuals (or charlatans, to be more exact), make use of other peoples ignorance. Sometimes, they even claim that they have remedies for every possible illness. It stands to reason that this panacea is extremely expensive, though in fact, it is just a fake. Naturally, we have to admit that under some circumstances natural chemicals may be safer that industrial ones, but we must not make any generalizations.

Such international treaties as the Kyoto Protocol or the Clean Air Act have always been a subject of heated discussion among ecologists and economists. The underlying cause of this controversy is the question whether these legislative acts are effective or not. Some economists acknowledge the necessity for the reduction of greenhouse gases such as for example methane, carbon dioxide, but they also argue that such policy may strike a heavy blow on the financial and industrial systems of many countries (Epstein, 1990, p 66). In addition to that, they even state that the international community may be able to cope with the aftermaths of global warming. According to them, the restrictions, imposed by these conventions may give rise to another economic crisis.

In their turn ecologists raise several objections, they are firmly convinced that the effects of global warming are entirely unpredictable. As a rule, they refer to the danger of ozone depletion or ozone hole as it is also known. Their overarching thesis is that if humankind does not change its attitude towards this issue, there will be no one to overcome economic crisis. Certainly, we have to admit that all the dangers of global warming are not known to us at this point.

Nonetheless, it should be taken into consideration that the transition to low-carbon industry may be extremely difficult some developing countries. The question arises, whether it is possible to come to any consensus concerning this problem. First and foremost, the conversion to ecologically safe technologies is a gradual process; one cannot presume that it can be completed in a relatively short amount of time. Secondly, this transition may increase the overall productivity especially in the long run, though, indeed, the possibility of an economic crisis must not be eliminated. In this case, we need to place special emphasis on international collaboration and mutual assistance, because now many states have to solve this dilemma on their own.

The attempts of international community are aimed at reducing the emission of greenhouse gases, and minimizing the dangers of global warming. On the whole, this task is multidimensional, and we may single out several aspects such as technological, economic, political, etc. Each of them should be addressed effectively. The main reason why so many countries find it difficult to develop and install environment-friendly technologies is the cost of the transition. In some cases, this may lead to considerable losses of profits, delays, or breakdowns. Some people even claim that it would be easier to deal with the effects of global warming than to switch over to low-carbon industry. In this regard, we should mention that often manufactures choose to pay fines than to install filters, because it is less expensive.

There is some other facet of this problem; industrial companies cannot replace obsolete equipment since they have no alternative. As a matter of fact, even now some machinery cannot be adequately substituted. Perhaps, the government should encourage industrial enterprises to develop new policies. Now, leading companies are virtually forced to reduce emission of greenhouse gases. But is it really possible to achieve any purpose my means of compulsion? From my viewpoint, financial assistance or some monetary rewards can act as a powerful stimulus promoting the production, free from greenhouse gases.

Nonetheless, many excerpts speak about another hurdle that must be cleared. It is mostly connected with the interaction between the countries. Under some circumstances the governments cannot come to the agreement due to some political controversies (Colls, 2002, p 35). For instance, the United States and Russia are not always willing to collaborate just because these superpowers are struggling for the palm of supremacy in the world politics. They are not unanimous even in such issue as global warming or greenhouse gases.

On the whole, it is quite possible to say that international legislation does not provide clear and concise explanation as to who is responsible for the consequences of environment pollution such as failure of crops, the extinction of some rare species, the changes in ecosystem and so forth. Water pollution in one country may often resonate in other regions. In this case, it is of the crucial importance to determine the degree of liability.

There are numerous example of controversy; the most eloquent one is the notorious Danube pollution. This river passes through the territory of Germany, Austria, Slovakia etc. The discharge of cyanide that took place in the late nineties inflicted heavy losses on fishing industry in Romania. The government must negotiate the costs of controlling these pollutants, because it is a matter of mutual concern, thus the states should share the expenses in direct proportion to the degree of amenability.

Bibliography

Donald Curtis, Michael Hubbard, Andrew Shepherd (1998). Preventing famine: policies and prospects for Africa Routledge.

Jack G. Chirikjian, Edward Clement Kisailus, Karen M. Graf (1996). Biotechnology: Theory and Techniques Jones & Bartlett Publishers.

Jeremy Colls. Air pollution. Taylor & Francis, 2002.

Joshua M. Epstein, Raj Gupta (1990). Controlling the greenhouse effect: five global regimes compared. Brookings Institution Press.

Introduction

Copy number variations (CNVs) have more impacts on DNA sequence within the human genome than single nucleotide polymorphisms (SNPs). CNVs have gained a lot of importance which are widely accepted even if there are no fully evaluated optimal methods of identifying the disparities between the two. CNV has functional attributes in genome wide associations studies (GWAS). There are comprehensive reports that have been made concerning this matter in relation to the CNVs.

It has been studied and found that DNA collection using high density of about 500K Early Access SNP genotyping arrays resulted in more than 900 CNVs that range from 1kb to 4kb in size. It is important to note that CNVs identification does not involve incorporate DNA probes which are centralized in the polymorphic nucleotides. This is the significant technological doorstep in animal and human history i.e. the ability to manipulate the genes that are inherited by the younger generation.

Summary of the article

According to studies conducted, there is generally accepted principle that two personalities are about 99.9% identical at the nucleotide level after the human genome sequence completion. The genetic diversity among humans is affected by the nucleotide polymorphism which is present in the genome which makes two individual identical. It is postulated that DNA copy number changes among diverse individuals with different genome sequence within the context of specific loci within the genome.

These changes can effectively changes the spectrum of the specific genome loci i.e. it can span spectrum of an extra copy of chromosome present in the Downs syndrome to reaching the sub-chromosomal deletions that are concern with genetic traits which are depicted by individuals such as color blindness. There has been paradigm of genetic variation as from time immemorial as revised in the 2007 where genome-wide copy number variants which arise among phenotypically normal individuals.

It has been concluded that non-polymorphic probes are the basis for CNV identification after the research was conducted on characterization of pair DNA where about 200 CNVs were used to carry out the process. It has also been concluded that non-polymorphic probes aids in defining the CNV boundary delineation which tempers with the genomic organization. A lot of studies have also described wide spread of CNVs in the genome which is globally distributed.

New studies have analyzed that as the CNVs continues to catalogue, there are changes in the functions of the human genome such as metabolism in the body especially products such as drugs which are ingested into the human body. Other functions such as gene expression, developmental disorders and human disease susceptibility undergo changes in their normal cellular processes. In these studies, CNV detection has been done by use of non-polymorphic oligonucleotide which employs highly designed density array predicated. Genome-wide CNV identification coverage has been improved greatly through the approach of uncouples copy number detection. Additionally, a novel algorithm was established and authenticated purposely to extract CNV regions and boundaries.

In conclusion, human genetics have been applied in preventing diseases and to alleviate suffering. Genome identification has been incorporated into genetic engineering in changing of genes in living cells. For example, if the lung of human being is affected due to the defective genes, these genes can be altered and the disease can be cured. The latest research latest has shown that human genes can be transformed into the virus-like organisms that are introduced into a blood stream which are then transferred to the lungs..

References List

Sladek, R (2007). A genome-wide CNV Identification. 450-460.

Silencers

RNA silencing is an evolutionary conserved intracellular surveillance system based on the recognition and targeting of RNAs containing regions that are double stranded. Typical roles of RNA silencing include genome defense and specification of heterochromatin formation, posttranscriptional inhibition of gene expression by miRNA and antiviral defense. RNA silencing is induced by double-stranded RNA that is sensed by the enzyme Dicer. Dicer digests the double strand into double-stranded strand silencing interfering silencer RNA which incorporates with RNA-induced silencing complex (RISC) (Ahlquist, p. 1270). There are two classes of silencers both of which diminish a genes expression level. The first class is composed of position-independent elements that direct an active repression mechanism, although the functional basis for the repression by most members of this class remains uncharacterized. The second class is composed of negative regulatory elements (NREs) that are position-dependent sequences with a passive repression mechanism that seems to be demarcated by changes in histone acetylation. Repression is thought to result from physical inhibition of the interaction of transcription factors with other DNA sequence motifs by specific silencer-bound proteins. Silencer elements have been identified in a variety of positions in human genes, both near the promoter and within introns, exons, or flanking sequences. In some mammalian systems, the silencers located within the exon function at the level of DNA for regulation of gene transcription and also at the level of RNA for control of translation through interference with normal RNA processing or trafficking (Ahlquist, p. 1273).

Boundary Elements

Boundary elements also referred to as insulator elements are regions of DNA from 0.5 to 0.3 kb long that demarcate the 5 inches and 3 inches margins of a gene. Boundary elements function by establishing an intricate three-dimensional chromatin structure that is important for DNA and RNA processing. Boundary elements also block the inappropriate repression of transcription caused by local silencers.

RNA interference (RNAi)

RNA interference (RNAi) is the ability to selectively silence the genes and has revolutionized microbiology. Recent studies have shown that a cell that is a double-stranded RNA copy of a specific gene will prevent the native copy of that gene from being expressed. It is now possible for researchers to carry out studies on the function of any gene by silencing it with RNAi followed by monitoring how the cells functions are impacted. RNAi has first discovered accidentally in petunia plants in 1990 in Oakland, California at the DNA Plant Technology Corporation. RNAi is one of the tools of the cell to regulate gene expression and it occurs naturally. In 1998 two scientists, Andrew Fire and Craig Mello characterized the mechanism of gene silencing. This particular experiment was carried out on worms and it demonstrated that the double-stranded RNA is the key player. This meticulous work led to the pair winning the 2006 Nobel Prize in Physiology or medicine. According to Fire, RNAi plays an important role in fighting viral infections and in the molecular changes that cause cells to become cancerous. The RNAi mechanism typically involves recognition and response. A cell on seeing the double-stranded RNA will first respond by chopping it into bits which is recognizable since the double-stranded RNA is a distinguished structure when viruses replicate. However, the cell may go a step ahead and chop any stuff that looks like the RNA even those that are single being-stranded. A variety of short double-stranded or single-stranded RNA molecules has recently been shown to have a role in the regulation of gene expression. RNA-mediated or interference control of gene expression constitutes an entirely new pathway of gene regulation and occurs through several different mechanisms. The RNA-interference (RNAi) has been suggested as a novel technique for treating a wide variety of illnesses ranging from cancer to infectious diseases. Several model systems have been developed and they demonstrate the potential of RNAi-based approaches despite the fact that delivery of short RNA molecules remains an obstacle to RNA-based therapies. For instance, injection of short interfering RNA (siRNA) has been used to protect mice from viral hepatitis and nasally administered siRNA has been used to protect mice from respiratory virus infection (Elbashir, Harborth, Lendeckel, et al., p. 494).

Short interfering RNA

RNAi through short interfering RNA (siRNA) is suggested to have initially developed as a mechanism to silence the expression of genes encoded by repetitive sequence elements. The siRNAs are double-stranded RNA molecules that are 21 to 22 nucleotides long. They are produced from long double-stranded RNA molecules that are cut into shorter fragments by an enzyme named Dicer. An RNA-induced silencing complex (RISC) removes the sense strand leaving the anti-sense to guide the RISC to mRNAs produced from the target gene. The RISC prevents the production of the encoded protein which effectively silences the gene from which the mRNA is produced. The siRNAs are also capable of directly inhibiting gene expression by transcriptional silencing. However, the process of this mechanism remains unclear though it has been suggested that transcriptional silencing involves DNA methylation as well as chromatin remodeling through histone methylation (Ahlquist, 1272).

Micro RNA

Micro RNAs (miRNAs) are short single-stranded molecules that are 19 to 25 nucleotides long. They play vital roles in gene regulation, development and are also evolutionary conserved. In humans, there are approximately 200 to 255 genes encoding miRNAs. The miRNAs inhibit translation of mRNA binding to partially complementary sequences in the 3 untranslated region of mRNA. Generally, mRNA contains many miRNA binding sites in its 3 untranslated region, and since binding is by only partially complementary sequences, several Miura can bind to each transcript and each MRA can bind to mRNA transcripts from several different genes. A wide variety of novel classes of short RNAs have recently been discussed such as the small modulatory RNA (mRNA). The mRNAs are short double-stranded RNA molecules that are 20 to 23 nucleotides long and like miRNAs are evolutionarily conserved. Despite the fact that the details of this mechanism are unclear, mRNAs exert control over gene expression via interaction with specific regulatory proteins.

Silencer RNA (siRNA)

The siRNA refers to short or small interfering RNA and requires transfection of cells using lipid-based transfection reagent. In addition, it is also useful for transient reduction. The siRNA gene silencers are groups of three specific 19-25 nucleotide-long double-stranded RNA molecules with 2 to 3 hanging on each head. Further, there are 10 µM and about 50-100 transfections. Upon request, single siRNA duplex components are available for independent verification of target gene silencing. The Santa Cruz Biotechnology company gives gene silencers targeted to 23,775 human genes. This is suggested to present approximately 100% of putative protein-encoding human genes. Other offers include 26,654 putative protein-encoding mouse genes which represent 100% (Elbashir, Harborth, Lendeckel, et al., p. 497).

How do siRNA Gene Silencers work

The siRNA gene silencers enter the cell via lipid-based transfection. The siRNA unwinds after binding with the RISC molecules and the double strands are separated. The activated RISC/siRNA complex associates with the target mRNA and gets cleaved into short strands. To counteract with the silencer RNA, viruses develop silencing suppressors that hold up the siRNA-guided RNA silencing pathway. A recent study using heterologous Drosophila in vitro embryo RNA was used to analyze the molecular mechanism of suppression of silencing suppressors. The result showed that different silencing suppressors inhibit the RNA silencing via binding to siRNAs. The efficiency of silencer RNA in humans, mouse, and rat has been tested. However, the success of the RNAi experiment depends only on the transfection. It is therefore used for developing and optimizing the siRNA transfection conditions such as the cell number, concentrations of siRNA and the amount of transfection reagent. There are several support products for siRNA gene silencers include the siRNA transfection reagent, transfection medium, dilution buffer, control siRNA and fluorescein conjugated control siRNAs which presents twisted sequences will not lead to specific knock-down of any known cellular mRNAs (Elbashir, Harborth, Lendeckel, et al., p. 497).

References

1. Elbashir, S. M., Harborth, J., Lendeckel, W., Yalcin, A., Weber, K., and Tuschl, T.  Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells. Nature 411 (2001): 494498.
2. Ahlquist, P. RNA-dependent RNA polymerases, viruses and RNA silencing. Science 296 (2002): 12701273.

Genetic engineering implies the scientific practice of adding DNA to living organisms to create new traits that do not exist naturally. In recent years, it has attracted particular attention as a substantive number of people believe that natural processes should not be interfered with. However, from a personal perspective, genetic engineering has multiple benefits that contribute to the improvement of life quality. First of all, the development and implementation of genetic engineering may help to combat and defeat multiple serious diseases. For instance, hereditary diseases caused by the presence of defective genes may be altered through the creation of new defensive genes. The potential increase of peoples physical characteristics and lifespan may be regarded as another advantage of genetic engineering as it is able to speed the process of natural adaptation to new conditions and diseases.

Genetic engineering may be regarded as a potential solution to the issue of food scarcity and malnutrition as it may be applied to crops. Genetically modified plant breeding enhance the characteristics and nutrition value of plants, improves their tolerance to diseases and changing environmental conditions. For instance, genetically modified papaya resistant to papaya ringspot virus has been cultivated for human consumption in the USA for more than a decade (Kanchiswamy et al., 2015, p. 62). Moreover, while ordinary fruits and vegetables are suitable for specific temperatures, genetically improved plants may grow in other climate zones. Crops with modified nutrition value may be distributed to regions with people who suffer from malnutrition in order to improve their health.

The Summary

In 1998 French researchers Christian Vaisse, Karine Clement, Bernard Guy-Grand & Philippe Froguel published an article A frameshift mutation in human MC4R is associated with the dominant form of obesity in the scientific journal Nature genetics. The article implies exploring the human melanocortin-4 receptor and its relation to obesity. The authors claim that genetic factors and mutations in particular genes may present the reasons for gaining weight, and this topic is not explored thoroughly.

The research contains the description of MC4R action in the human genetic system and referencing references some experiments, which analyze the mutation in MC4R of obese people. According to the first-mentioned experiment, mutations in MC4R were screened in the patients with the highest maximal lifetime Z score and a history of obesity in infancy (Vaisse et al., 1998, p. 113). The second exploration regards a 35-year-old woman and her familys history of obesity. The authors present the figures, which demonstrate that her family has obese subjects in generations (Vaisse et al., 1998). It is illustrated that her mother, sister, niece, and young brother have the same history of obesity, while it is not relevant for her father, aunt, and another other niece. The PCR-RFLP assay, which was conducted by the researchers, did not reveal mutations in the control population. However, the mutation, causing severe obesity phenotype, was found over three generations. All the obese people in the family had a Z score at least four standard deviations above a normal BMI (Vaisse et al., 1998, p. 114). It is worth mentioning that the male mail carrier had less susceptibility to obesity.

In summary, the data presented in the article helps to indicate a frameshift mutation in MC4R. It appears to be the reason of for the non-syndromic form of obesity and presents a monogenic dominant gene. The authors managed to prove the direct relation relationship between obesity and mutation in MC4R successfully. This way, the article is educative and contributes to exploring this filedfield, which requires further developments and experiments.

Reference

Vaisse, C., Clement K., Guy-Grand, B. & Froguel P. (1998). A frameshift mutation in human MC4R is associated with the dominant form of obesity. Nature Genetics, 20, 113-114.

Introduction

Personal Genomic Services

As described above, the advancement of the SNP technology in genomic analysis has made it possible to achieve cheap, effective, high-throughput, novice and fast methods for analyzing personal genomes. The company is providing services through its program The 23andMe Personal Genome Service.

The aim is to provide health and ancestry information services to the people based on genetic analysis of their genomes.

The collection of DNA from saliva is less invasive than blood and other samples (Pulford, Mosteller & Nelsen 2013). This makes it an suitable method of DNA extraction to most people. In addition, it is simple and quick because saliva is readily present in the mouth.

The biology behind the 23andME services is based on the idea of genome-wide analysis, a genetic analysis for the human genome. It is based on the SNP technique. Previously, it was understood that rearrangements in the genome could take place as rare events, causing genomic disorders. Later, it was realized that the human genome contained numerous segmental duplications. However, the use of the genome-wide assays in the HGP allowed researchers to achieve a systematical assessment and visualization of the genome-wide differences in the copy number of regions in healthy, normal and unrelated persons. The variations were taken to mean gains and losses of the segments ranging from a few kbs to several hundreds or even millions of kbs. About 35-40% of the copy number variations were detected in multiple individuals, which indicated that about 20 copy number variations exist in the human genome. This marked an important turn point for the evolution of the SNP technology and its application in medicine. Currently, studies indicate that over 15,960 structurally variable loci exist in the human genome. They are dispersed throughout the genome but are mostly found in clustered in certain locations within the genome such as the sub-telomeric and pericentromeric regions.

Studies with SNP technology on personal human genomes have shown that individuals differ in human genomes reference sequence at an average of 3.4 million SNPs (Nachman 2011).

Noteworthy, most of the SNP variations occur in non-coding regions where inversions and rearrangements take place, but these events lead to pathologic conditions.

The C282Y mutation is found on the HFE gene, which is located in the human chromosome 6. The mutation is carried in about 13% of the individuals of Caucasian backgrounds and is closely associated with the hereditary hemochromatosis, an iron-loading disease that makes it difficult for the affected individuals to absorb iron (Fairweather-Tait, Harvey, Heath & Roe 2007). This mutation is a good example of harmful SNPs found in the human genome, particularly in the non-coding regions (Nachman 2011).

However, most SNPs have no phenotypic effect in humans. In fact, only <1 of all SNPs in human genomes have an impact on the protein function because SNPs are located on the non-coding regions of the genome (Shastry 2009). An example is the missense mutation 1580G>T SNP in LMNA gene, which is located in position 1580 (nt) in the human genome. Nevertheless, most SNPs have latent effects because their phenotypic effects are achieved when other factors come into play. For instance, the G542X is a mutation on the human cystic fibrosis transmembrane conductance regulator gene (CFCR gene) that contributes to cystic fibrosis, but the impact is latent because CF occurs due to the effects of the mutation when other factors are present. Therefore, not all SNPs are detrimental.

Some SNPs are related with drug resistance in humans. For example, scientists have established that the silent mutation on the multidrug resistance gene 1( MDR1 gene) slows down translation of the gene, which causes the gene to be less functional due to poor folding of the protein (Gottesman 2007).

Positive implications of genetic screening

The genome analysis technique has made it possible to detect the presence of genetic factors likely to cause certain diseases. As indicated above, it is possible to identify individuals predisposed to develop diseases such as Alzheimers, CF, hereditary hemochromatosis and some forms of cancer. As such, it has enhanced diagnosis. Moreover, it makes it possible to develop early interventions to prevent the occurrence of the disease. Thirdly, the technique has made it possible to identify hereditary factors, especially in classifying individuals and solving matters of lineage and hereditary.

Negative implications

A major implication of the process is the exposure of critical information about an individual, especially when an individual carries genetic factors predisposing him/her to certain conditions as dementia. In fact, Alzheimers disease has no cure and knowing that one will get it in later stages of life is likely to cause psychological stress as well as stigmatization in the society.

Conclusion

The presence of several bands of the Amplified WMIN gene- exposed to Hind III indicates the presence of a mutation on the gene, which is a form of SNP. This study is an example of the research work that has worked with SNP technique on personal human genomes to indicate how individuals differ in human genomes reference sequence at an average of 3.4 million SNPs (Nachman 2011). The number of novel variations in each genome does not necessarily decrease with the rising number of individual genomes being sequenced. Previous studies have used similar approaches to show that a personal genome has between 4000,000 and 600,000 novel SNPs compared to dbSNP (Nachman 2011).

References

Fairweather-Tait, SJ, Harvey, L, Heath, ALM & Roe, M, 2007, Effect of SNPs on iron metabolism, Genes & Nutrition, vol. 2, no. 1, pp. 1519.

Kimchi-Sarfaty, C. Oh, JM, Kim, IW, Sauna, ZE, Calcagno, AM, Ambudkar, SV & Gottesman, MM, 2007, A silent polymorphism in the MDR1 gene changes substrate specificity, Science vol. 315, no. 5811, pp. 525-528.

Mitchelson, KR & Cheng, J, 2011, Capillary Electrophoresis of Nucleic Acids: Introduction to the Capillary Electrophoresis of Nucleic Acids, Springer, London, UK.

Nachman, MW, 20113Single nucleotide polymorphisms and recombination rate in humans, Trends in genetics vol. 17, no. 9, pp. 481485.

Pulford, DJ, Mosteller, M & Nelsen, AJ, 2013, Saliva sampling in global clinical studies: the impact of low sampling volume on performance of DNA in downstream genotyping experiments, BMC Medical Genomics vol. 6, no. 20, pp.1-19.

Shastry, BS, 2009, SNPs: impact on gene function and phenotype, Methods Mol Biol vol. 578, no. 6, pp. 3-22.

Introduction

Every expectant mother wants to be sure that her baby is healthy, well-developed, and complications do not threaten the pregnancy. Modern technologies allow detecting pathologies at an early stage of pregnancy, which makes it possible to make the necessary decisions promptly. Genetic screening (prenatal screening) is a maternally and fetal-safe screening that can accurately identify the threat of genetic diseases and the risks of pregnancy complications. For parents it is highly important to ensure health safety for them and their children so that early diagnosis should regard as a preventive tool, which assists both parents and clinicians to secure fetus health.

Concept Definition

The provided descriptive report explains how genetic screening and testing assists clinicians in determining cognitive disabilities in babies. This technique is more known as a prenatal test, which is highly essential for pregnant women. Genetic screening (prenatal screening) is a complex of diagnostic studies in the production of anomalies, which is developed and identified (brand management) of the pathology of the fetus. Genetic screening uses UZD screening (11-13 weeks, 16-18 weeks, 21-22 weeks, 30-32 weeks required number) and biochemical screening (consecutive test 13-13 weeks, and triple 16-18 weeks life) (DeThorne and Ceman 61). The double test is a personal association with the duration of plasma protein A-PAPP, chorionic gonadotropin. The triple test determines alpha-fetoprotein, chorionic gonadotropin, unbound estriol. Genetic screening is recommended for all long-term manufacturers of large manufacturers.

Besides, pregnancy screening reveals the possibility of chromosomal abnormalities or congenital disabilities in a future baby. Prenatal testing is performed to eliminate the likelihood of syndromes, like Down, Edwards, Patau, neural tube defects, and other anomalies of the placenta. It should be noted that the most common chromosomal abnormality is Down syndrome.

Such screening is based on the difference between indicators in the blood of a pregnant with chromosomal abnormalities and the blood properties of women who carry a healthy baby. The saturation of the markers is determined by the duration of pregnancy and the condition of the fetus (Shaffer et al. 502). Consequently, screening is assigned at a fixed interval when the risks are assessed as accurately as possible. Mostly, two such studies are required: the first and second trimesters, a double and a triple test, respectively.

Concept Description

Genetic screening is recommended for pregnant women who fall into the following categories:

1. Age over 35;
2. Ultrasound of the fetus showed deviation from the norms of development;
3. One parent is a carrier of the genetic disease;
4. The family already has a child or close relative with a chromosomal disease or congenital disability;
5. Not yet aware of the pregnancy, the woman took potent drugs that were not recommended for use by pregnant women, did x-rays or were exposed to any radiation, were in stressful conditions for the body;
6. Partners have related relationships (e.g., cousin and sister);
7. The family wants to exclude the possibility of having a baby with developmental disorders or chromosomal diseases.

The genetic test allows clinicians to determine and identify these specific deviations in DNA:

1. Trisomy (21 pairs of chromosomes (Down syndrome);
2. The risk of trisomy on the 13th chromosome (Patau syndrome);
3. Trisomy on the 18th pair of chromosomes (Edwards syndrome);
4. Cornelia de Lange Syndrome;
5. Smith-Lemley-Opitz syndrome;
6. Shereshevsky-Turner syndrome;
7. Triploidy of maternal origin;
8. Nerve tube defects (anencephaly, spina bifida);
9. Omphalocele (umbilical cord hernia).

It should be noted that most of these diseases have a significant impact on the quality of life of both the child and the whole family. Some of them can be corrected, for example, spina bifida in the mildest forms may not require treatment at all; some defects can be eliminated surgically, but several cases, even after surgery, will have negative consequences (Shaffer et al. 503). It is a mistake to think that chromosomal abnormalities are rare cases that number in the tens of thousands of newborns. Some anomalies are indeed infrequent, but Down syndrome occurs in a single case in 600-800 births. At the same time, even families who are not at any risk can lose in the genetic lottery.

Genetic Screening Technique

Prenatal screening is performed twice  in the first and second trimesters of pregnancy. As noted earlier, in addition to assessing the risks of genetic pathologies, it allows clinicians to predict possible complications in pregnancy, such as late toxicosis, placental insufficiency, intrauterine hypoxia, preterm delivery. The first trimester, 11-13 weeks of pregnancy, should be screened, as the part of initial genetic screening. At this time, the activity of the embryo is still low, but the work of the placenta is already very active, so much information is provided by its indicators  free HCG (human chorionic gonadotropin) and PAPP-A (pregnancy-related plasma protein A) (DeThorne and Ceman 65). An indicator that does not meet the deadline determines a delay in intrauterine development or signal the risk of hypertensive conditions.

The first screening is combined with an ultrasound examination to assess compliance of fetal development with the standards. Pregnancy trimester one screening should be 11 to 13 weeks. Nonetheless, clinicians suggest that it is preferably 12 weeks, as one of the most appropriate time for reliable results. It detects the likelihood of pathologies, such as defect of the anterior abdominal wall, nerve tube, specific genetic pathological changes. Besides, the double test indicates the threat of abortion, fetoplacental insufficiency. The conclusion of the trimester one screening is based on ultrasound and biochemical blood analysis. Free ²-HCG and PAPP-A are also calculated. At 10-12 weeks of pregnancy, the HCG level reaches its highest level and then decreases. The PAPP-A study should be performed at week 12 (Franceschini et al. 573). After 14 weeks, it is not informative. It is also necessary to measure the nasal bones, blood flow in the venous duct, to exclude regurgitation on the tricuspid valve. Trimester one biochemical screening gives a 90% chance of detecting Down Syndrome in combination with ultrasound markers. If necessary, it is recommended to calculate the individual risk of having a baby with chromosomal abnormalities.

The second prenatal screening is conducted from 14 to 20 weeks, preferably in 16-18 weeks, since many pathologies can be formed during this period. It is current for weeks 16-20 (preferably 17-18). Screening of the second trimester consists of a detailed ultrasound, biochemical analysis of blood from a vein (HCG, AFP, and EC), so to speak, triple test. Ultrasound examination in the second trimester confirms the development and determines the size of the fetus, eliminates anomalies of development of major organs and systems, evaluates amniotic fluid, length of the nasal bone, thigh and shoulder bones. The estimation of the increase or fall in hCG is registered, as in the first trimester. AFP is most informative at 17-18 weeks (Légaré et al.). The level of free estriol (E3) demonstrates the functioning of the fetoplacental system. Its fall of more than 40% indicates a threat of miscarriage. A complex combination of indicators is estimated  placental HCG, fetal AFP (alpha-fetoprotein), and free estriol, which characterize the state of the placenta, fetus, and the body of a woman. The second screening provides detailed information on the operation of the fetoplacental complex.

Not only does screening reveal the risk of chromosomal abnormalities in a baby, but it can also diagnose and prescribe appropriate therapy for various pregnancy complications. Screening conclusions are provided as a report with test data and generally accepted medical standards. The results provide indicators of the probable risk of trisomy in the form of a ratio of -1: 14000; therefore, 1 case for 14000 or more pregnancies (Shaffer et al. 505). Given all the data, their definition and interpretation, the gynecologist recommends to the woman additional consultation with the geneticist and undergo an advanced independent analysis.

Conclusion

Prevention of complications identified through screening helps prevent many complications of the last trimester of pregnancy and possibly save the life and health of the baby. It is important to remember that a risk group is not a diagnosis. Pregnant women who have been excluded from screening at the risk of pathologies do not require further studies. However, at her discretion, the woman decides to have her screenings or not. The most accurate method of diagnosis of chromosomal pathology is the analysis of fetal chromosomes, which gives an accurate diagnosis. To confirm (or refute), additional tests are needed  amniocentesis or chorionic villus biopsy.

Works Cited

DeThorne, Laura S., and Stephanie Ceman. Genetic Testing and Autism: Tutorial for Communication Sciences and Disorders. Journal of Communication Disorders, vol 74, 2018, pp. 61-73. Elsevier BV.

Franceschini, Nora et al. Genetic Testing in Clinical Settings. American Journal of Kidney Diseases, vol 72, no. 4, 2018, pp. 569-581. Elsevier BV.

Légaré, France et al. Improving Decision Making About Genetic Testing in The Clinic: An Overview of Effective Knowledge Translation Interventions. PLOS ONE, vol 11, no. 3, 2016, p. e0150123. Public Library of Science (Plos).

Shaffer, Lisa G. et al. Quality Assurance Checklist and Additional Considerations for Canine Clinical Genetic Testing Laboratories: A Follow-Up to The Published Standards and Guidelines. Human Genetics, vol 138, no. 5, 2019, pp. 501-508. Springer Science and Business Media LLC.

The hypothesis of the study

This research was conducted in Saudi Arabia to determine the genetic and genomic alterations that underlie classic anirida. Though the topic seems scientific, the researchers did not include the genes the research deals with in the topic. The topic does not give a clear picture of what in deed is in the paper since the contents cannot be read from it by the intended audience. The problem of classic anirida is an appropriate problem that needs researchers to deal with. This is because the information from the previous studies does not tell on the exact cause of the disease thereby requiring the scientists to do genetic and genomic analysis of the disease. According to the author of the study, previous information only showed that the disorder was caused by dominant mutations on the PAX6 gene but when this information is compared to the results of PAX6 analysis, it raises questions as to whether the disorder is as a result of dominant mutation of the PAX6 gene. This is because there are present cases of anirida that show no identifiable PAX6 mutation.

The question the research is revolving was very interesting since they provide the reader with the reason for them to have interest in the research, which is very interesting as far as the cause of PAX6 negative classic aniridia cases is concerned. In their introduction, the researchers used other previous work by other researchers to give relevant literature as to why they were indeed interested in the research. This literature in the introduction is standard in length, and at the end the researchers have explain what they asked in the research. The hypothesis proposed by the researchers of this study is that the individuals with PAX6-negative classic anirida could have gotten it through alterations of regulatory elements of PAX6 genomically or the probability that there is either point or deletion mutations in genes that cause congenital iris problems or disorders.

The authors are not the very first to address the question on the real cause of classic anirida. There has been some other work done by different researchers to come up with the information that the disorder is caused by dominant mutation of PAX6. The researchers of this study therefore checked someone elses work and came up with the research question based on the results of the previous studies. The researchers base their knowledge about the genotypes associated with the disorder from the work of other researchers.

Methodology

The objective of the method used by the researchers is to find out whether genetic alterations of the PAX6 regulatory elements and mutations in other genes that cause congenital iris problems cause the classic anirida in PAX6 negative classic anirida cases. The method described by the researchers explains how they were able to answer the question for the research. The information the researchers gave is enough to let another researcher repeat the experiment and get reproducible results. The protocol the researchers followed is not complicated, and this is why they did not include any form of a diagram or a table in their explanation of the method. Ethical considerations that were relevant to the research were mentioned where the researchers got the approval of the institutional review board for their study.

The method the researchers employed in their study is indeed appropriate to answer their questions regarding the cause of classic anirida in PAX6 negative classic anirida cases. In general, the sample was taken from patients with classic anirida and their blood samples taken after confirming that they indeed had the disorder, which is characterized by invisible iris, keratopathy and lens opacity. Direct sequencing was done and if PAX6 mutation was not showed, deletion in PAX6 was assessed through multiplex ligation- dependent probe amplification (MLPA). In case there were no PAX6 deletions, sequencing of the candidate genes was done followed by karyotying of the genome through array CGH. The relatives of these patients also underwent the genetic analysis for confirmatory purposes. In the method, the researchers considered their alternative hypothesis. Even if the hypothesis were not cleared identified in the article, they are identified as the researchers speculated causes of classic anirida in PAX6 negative classic anirida cases. In their effort to refute their hypothesis, the methodology was centered in trying to test on whether to reject it or accept their hypothesis. DNA was extracted from blood of the patent, quantified through spectrophotometer and amplified via PCR. Coding regions were sequenced along variants in the boundary sites. Following the removal of nucleotides, analysis of the sequence was done and compared to the sequences for reference. Though the methodology used answered the research questions, the researchers did not think of other methods that could be used to give result.

However, the sample size used in this study was not large enough to provide reliable scientific findings that should be documented. This is the reason as to why the interpretation by the author should not be over emphasized until more analysis on the cases is done to confirm the findings of this research.

Results

The researchers have not used graphs and tables to summarize their findings but did it in text. In the results section the researchers have stuck to showing what they found after doing the experiment without going into discussing why the results were the way they were. Of the 12 patients whose analysis was done, 10 of them had PAX6 mutation, while two of them even if showed classic anirida, did not show PAX6 mutation. After further analysis of the two patients without PAX6 mutation, they lacked pharmacological mydriasis and the iris. The conclusion made by the researchers is well supported by the results since in the familia cases all of them showed PAX6 mutation while two of the sporadic cases did not show mutation of the PAX6. The two cases that did not show PAX6 mutation, one was homozygous for the pathogenic missense FOXC1 variant and deletion on 11q24.2 chromosomes. On analyzing the parents, they showed homozygosity for the FOXC1 variant and were heterozygous for the deletion. The other case was idiopathic.

Conclusion

The conclusion was highly supported by the results. Other scientists work is used in the conclusion of the study to support the results of the study. As the parents results of one of the cases showed, it was supported that there is a recessive cause for any phenotype if there is the presence of a recessive cause. The heterozygous PAX6 mutation underlies the reason for most classic anirida cases even in a setting of enhanced homozygosity in parental ancestry. Deletion in homozygous 11q24.2 or in combination with missense variant in homozygous FOXC1 was speculated to be the cause of classic anirida via array CGH. From other scientists work, p.P297S FOXC1 is responsible for altering interactions with factors in the degradation and transactivation of FOXC1.

The study has very many openings for future research since it would be appropriate to determine if the genes contained in the deletion of 11q24.2 have a role in the development of the eye. There is also a possibility that the non coding regulatory regions for PAX6 may appear in 11q24.2. The researchers use other peoples work to clarify on interfamilial phenotypic variability caused by the difference in individuals background in terms of the genotype and the environment.

The study suggests additional experiment that needs to be carried out to clearly determine the real cause of classic anirida in PAX6  negative cases. From this study, it was found that there is variation in the genomic copy number and further research is needed to determine this association with classic anirida in the cases where patients lack PAX6 mutation.

The results were clearly discussed by the researchers thereby convincing the reader that indeed their hypothesis was well manipulated to come to the conclusion of the findings. All along their written text, the argument presented are logical and their facts accurate since they well support them with other previous related research. All the important terms used in this study were clearly defined for the reader to understand the concept and intent. All the arguments presented had sufficient evidence through the use of other work by previous researchers. The main p is well supported throughout the text making the text very appropriate (Khan, Aldahmesh & Alkuraya 2011,P8-714).

Reference

Khan, A., Aldahmesh, A. & Alkuraya, S. (2011)Genetic and genomic analysis of classic aniridia in Saudi Arabia. Molecule Version, Biology and genetics in vision research, 17, 708-714