Annotated Bibliography On Genetic Disease Project

833 WordsMar 15, 20154 Pages
Muhammad Moosa Genetic Disease Project Period ½ Wiskott-Aldrich Syndrome Wiskott-Aldrich Syndrome (WAS) is a genetic defect characterized by immunodeficiencies and an inability to properly form blood clots. It affects 4 out of 1 million live births worldwide. Patients with WAS show symptoms such as eczema, easy bruising, susceptibility to infection, autoimmune disorders, and in many cases, lymphoma in later stages of life. Wiskott-Aldrich Syndrome was discovered in 1954 by Dr. Robert Anderson Aldrich while examining one of his patients. His findings were similar to that of Dr. Alfred Wiskott, who documented the disease in 1939, but did not know its cause or what the disease was. He noted that the three brothers of the family he studied had WAS, but not the sisters. In 2006, German researchers studied the family members of the brothers from Dr. Wiskott’s documentations and saw that the Wiskott-Aldrich gene was mutated. Wiskott-Aldrich Syndrome is caused by a mutation in the WAS gene. Since the WAS gene is located on an arm of the X chromosome, WAS is a sex-linked disorder. This is also seen through the frequency in the population, with women being only 10% of all those affected by WAS. The mutation is said to be a point mutation in the WAS gene, however, there is still no hard evidence of it, since it is extremely rare in the population. The Wiskott-Aldrich Syndrome protein (WASp) is synthesized by the WAS gene, located on Xp11.4 - p11.21. Normally, the WAS gene

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