Disease Testing and Phenotype

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Table of Contents

Introduction
Disease Phenotype
Molecular Genetics
Public Health Value
Conclusion
References

Introduction

Human beings must have access to proper health care services in order to do their daily activities without interference. Therefore, human health is an indispensable aspect of human life since nobody can feel comfortable if they are unwell. Scholars and medical scientists continue to carry extensive research on how to make human life better by eradicating diseases. They work tirelessly to identify ways of controlling and treating diseases. In this discussion, the emphasis lay on Dystrophic Epidermolysis Bullosa, its genetics, spread, prevalence, and the value of testing this disease.

Disease Phenotype

This disease mostly affects the skin and is evident by the presence of visible minor swellings and blisters on the skin. The gene responsible for this condition is the COL7A1 located in the keratin of the skin’s epidermis layer. The best way to diagnose this disease is by, using electron microscopy and immunofluorescent antibody. These are transmitted and mapped in the skin and reveal the presence or absence of the COL7A1 gene that is responsible for Dystrophic Epidermolysis Bullosa (Fleisher 2006). These genes combine with protein molecules in the epidermal and dermal regions and form strong strands that attach to the roof of the epidermis and dermis skin layers.

Therefore, they form a network of strong fibers that are able to resist internal and external pressures on the skin. As the strands continue to attach to each other they become strong and cause the skin to have protrusions which appear as swellings on the skin surface. When COL7A1 genes mutate they make these strands weak and eventually break as a result of their inability to resist external and internal pressures. As a result, the swellings and blisters burst to release thick fluid on the skin surface. On the other hand, these blisters are rarely painful, and people do not realize they have busted except for the visible fluids on the skin surface (Pfender and Lucky 2006). However, this disease is treated by administering antibiotics, calcium and iron supplements, blood transfusions, and dietary support.

Although, there was a popular belief that family members of victims suffering from COL7A1 had penetration probability of 100%, this has been proven otherwise since there is an extremely poor relationship between family members and victims regarding this disease. Moreover, this disease’s prevalence is extremely low since there is a possibility of having one carrier among three hundred and seventy people. In addition, in every one million births there is 0.5% probability of having nonresistant individuals while there is only about 2.9% out of one million cases of mild infections (Fleisher 2006). This means that there are fewer chances that many people know they have the disease or not.

Molecular Genetics

Dystrophic Epidermolysis Bullosa is not a common infection in most people, therefore, has few researchers focus their attention on its causes and treatment. In addition, it only exists in mild forms except for few isolated case where it has adverse effects on the limbs, digestive system, eyes and nose. The mutation of COL7A1 gene is responsible for causing this infection (Pfender and Lucky 2006). However, there are other underlying factors that determine whether an individual will develop this disease or not.

In most cases, this situation goes unnoticed depending on an individual’s ability to fight and resist infections. The most common ways this disease manifests in human beings are Severe, Generalized and Dominant conditions. The first condition is evident during birth and continues throughout a person’s life until death occurs. It has severe effects on the skin and underlying tissues and has significant effects on body parts hence interfering with vision, hearing, eating and breathing. The second condition affects mostly limbs and has mild effects on the skin surface. The third condition is not easily noticed except for the presence of dystrophic toenails and mild blisters that heal leaving shallow scars on the skin (Fleisher 2006). However, as individuals become more active due to growth and development this condition improves and eventually disappears. This information helps doctors and patient’s relatives to know how to treat the disease and limit its effects on patients.

Public Health Value

It is necessary for the public, doctors, laboratory technicians, nurses and patients to undergo genetic testing in order to know whether they have the COL7A1 gene responsible for causing Dystrophic Epidermolysis Bullosa. This will help reduce the prevalence and penetration rates in the society since couples having the possibility of transmitting these genes to their children are discouraged from getting married (Pfender and Lucky 2006). Gene testing will offer more information to the patient, doctor and family members on the possibilities of future mutations that may create rooms for other diseases that are not easy to cure including cancer. Gene testing for this disease will allow timely detection of its symptoms; therefore, intervene before the disease gets out of control.

Conclusion

Even though, Dystrophic Epidermolysis Bullosa is not a common disease it is necessary for people to ensure they know their genetic compositions and the possibilities of developing other diseases as a result of gene mutations. Nations and individuals should invest in research in order to identify ways of dealing with diseases that threaten human life, even though; there are possibilities of controlling and treating them.

References

Fleisher, L. E. (2006). Anesthesia and Uncommon Diseases: Expert Consult – Online and Print, 6E. Nebraska: Saunders.

Pfender, E. G. and Anne W. Lucky. (2006). Dystrophic Epidermolysis Bullosa. Seattle: University of Washington.

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Disease Testing and Phenotype

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