Write an essay in which you use a named human disease to explore one of the following genetic concepts: Pleiotropy; Gene Interaction; Translocation;
Duplication; Incomplete penetrance; Multiple alleles; Incomplete dominance; Sex limitation
NOT ON PLEIOTROPY OR SICKLE CELL ANEMIA
Sample Solution
Pleiotropy is a phenomenon in which a single gene affects multiple phenotypic traits. As an example, I will use the hereditary disorder Gaucher Disease to explore this concept.
Gaucher Disease is a type of lysosomal storage disorder, caused by the deficiency of an enzyme called glucocerebrosidase that results in abnormal accumulation of certain fats (lipids) within particular cells in the body. It can lead to various symptoms and complications such as anemia, bone pain, organ enlargement and neurological problems. This disease also has pleiotropic effects; it influences not only physical characteristics but also mental health as well. Patients with Gaucher Disease often experience learning difficulties and cognitive impairments due to their brain metabolism being affected by the lack of enzymes needed for proper functioning.