Case Workbook for Human Genetics
Quiz 4 :
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Q02 Q02 Q02
This pedigree represents a family with congenital contractural arachnodactyly, an autosomal dominant defect in the connective tissue protein fibrillin-2 that produces underdeveloped and stiff muscles, outer ear deformities, stiff and long fingers, and sometimes heart abnormalities. Why is no one affected in the first generation?
The mutant gene originated in a gamete in someone from the first generation.
There is no answer for this question
Q05 Q05 Q05
Thiamine-responsive megaloblastic anemia is a rare autosomal recessive condition that causes anemia, diabetes mellitus, and hearing loss. It is treatable with high doses of thiamine. a.Which individuals in the pedigree below must be carriers? b.What is the special relationship that led to the illness in two members of the fourth generation?
Q06 Q06 Q06
Acute intermittent porphyria is caused by a defective enzyme in the pathway that produces heme, the oxygen-carrying part of hemoglobin. Symptoms include abdominal pain, nervous and psychiatric problems. A person inherits it from two carrier parents, and the causative gene is on chromosome 11. What is the mode of inheritance?