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(Solved): Figure 1: Bob and Sue's families both have a history of an extremely rare Mendelian disorder. As th ...
Figure 1: Bob and Sue's families both have a history of an extremely rare Mendelian disorder. As their genetic counselor, you urged them to have the exome of several of their family members sequenced to identify potential causitive mutations. Below is a description of several mutations you identify. In each of the following, answer 1) Why do you think this mutation could/couldn't cause the disease 2) If this mutation were causal, what would be the mode of transmission 3) The probability that Bob and Sue's child will have a genotype similar to affected individuals. A. Both Bob's brother and Sue's aunt are homozygous for a C to T mutation in the 3rd position of a leucine codon in an important metabolic gene. Bob and Sue are both heterozygous for the mutation. Mutations in this gene cause related phenotypes in mice. (9pts) B. Bob's brother and Sue's aunt are heterozygous for the insertion of an autonomous DNA transposon in the exon of a key metabolic gene that could explain the disorder. Neither Bob's parents nor Sue's maternal grandparents have this insertion. (9pts)
C. As children, Bob's brother and Sue's aunt both ate food contaminated with hexyldiethylformylfakeline. In the Ames test, His- bacteria exposed to hexyldiethylformylfakeline are unable to grow on media lacking histidine. (9pts) D. Bob's brother is homoygous for a frameshift mutation in gene thought to be related to the disorder. Sue's aunt is homozygous for a nonsynonymous mutation at a different position in the same gene. \( (9 \mathrm{pts}) \)