You graduate and land a job in a medical genetics laboratory. A particular family has been identified in which a heritable genetic disease has arisen. Through genetic mapping, you identify a mutation in afflicted individuals that is likely causing this condition. In unafflicted members of this family, a region in the coding sequence of the gene in question has the sequence: 5’-CACATGATGATGATGATGATGCGT-3’ However in afflicted individuals, the gene has the sequence: 5’-CACATGATGATGATGATGATGATGATGCGT-3’. (A) Please propose a detailed mechanism for how this genetic change could have arisen, and illustrate this with a diagram below or on the back of this page. (B) Would mutations affecting this region of the gene be likely to cause a frame-shift in the protein coding sequence? Why or why not? In a related genetic disease, the wild-type or normal allele has the sequence: 5’-CAGCACACACACACACACACAGGTG-3’ (C) Would mutants arising via the mechanism you just described be likely to result in a frame shift in this sequence? Why or why not?
You graduate and land a job in a medical genetics laboratory. A particular family has been identified in which a heritable genetic disease has arisen. Through genetic mapping, you identify a mutation in afflicted individuals that is likely causing this condition. In unafflicted members of this family, a region in the coding sequence of the gene in question has the sequence:
5’-CACATGATGATGATGATGATGCGT-3’
However in afflicted individuals, the gene has the sequence:
5’-CACATGATGATGATGATGATGATGATGCGT-3’.
(A) Please propose a detailed mechanism for how this genetic change could have arisen, and illustrate this with a diagram below or on the back of this page.
(B) Would mutations affecting this region of the gene be likely to cause a frame-shift in the protein coding sequence? Why or why not?
In a related genetic disease, the wild-type or normal allele has the sequence:
5’-CAGCACACACACACACACACAGGTG-3’
(C) Would mutants arising via the mechanism you just described be likely to result in a frame shift in this sequence? Why or why not?
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