Genetics of Common Diseases — Flashcards

What is the most specific test for diagnosing hereditary spherocytosis?_____

Inherited form of thrombotic thrombocytopenic purpura is also referred to as _____ syndrome

Male breast cancer is associated with _____ mutation and Klinefelter syndrome

What HLA subtypes are associated with celiac disease? _____ and DQ8

In the treatment of Cystic Fibrosis, the combination drug _____ is indicated for patients who have two copies of the F508del mutation in the CFTR gene

_____ disease may be treated with oral zinc or chelating agents (e.g. penicillamine, trientine)

_____ cardiomyopathy / polyneuropathies are characterized by deposition of mutated transthyretin (TTR) protein in the heart and nerves

_____ cardiomyopathy is associated with the trinucleotide repeat expansion disease Friedreich ataxia

Patients with Refsum disease have _____ skin and shortening of the 4th toe

Deficiency of _____ protein causes autoimmune polyendocrine syndrome-1