Explain what a Punnett square is, and design one for hail color if binck hair is dominant (BB or Bb) and blond hair is recessive (bb). Genotype for father is recessive, and genotype of mother is heterozygous. Explain what the probabilities are 33.Explain Knudson’s two hit hypothesis. 34.Differentiate from a tumor suppressor gene (pro-oncogene) and an oncogene. 35.Explain what a translocation is and give an example. 36. Differentiate between chorionic villus sampling and amniocentesis. 37. Marfan syndrome results from mutations in the fibrillingene on chromosome 15, which contains the code for the glycoprotein fibrillin. What is the role of fibrillin in Marfan syndrome? 38.Define or list some characteristics of Ehlers-Danlos Syndrome? 39.A characteristic (or pathognomonic change) that is diagnostic of is a “cherry red spot” seen on the retina on ophthalmologic examination. 40. Gaucher disease is the most common lysosomal storage disease and symptoms are related to splenomegaly and bone marrow involvement. Thrombocytopenia and bone fractures can also occur. Briefly explain the diagnosis of Gaucher disease. 7
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