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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?

Question

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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