2 5 6 2 5 6 7 1) Based on the above pedigree Why is this unlikely to be a mutati

Question

2 5 6 2 5 6 7 1) Based on the above pedigree Why is this unlikely to be a mutation in mitochondrial DNA or maternal effect? A spontaneous mutation occurs in one of the copies of MT-TK, a gene found in mitochondrial DNA. MT-TK generates a tRNA required to make proteins for mitochondrial function. 2) a. How can this mutation become deleterious? b. In which parent and in which cells must this spontaneous mutation occur for it to be inherited? (hint: what happens if the mutation occurs in the heart.)

Explanation / Answer

(1)

In a Mitochondrial inheritance, mothers pass on the defective gene, therefore it can appear in every generation of a family and can affect both males and females, but fathers do not pass mitochondrial traits to their children.

In the given pedigree, if the mother in generation 1 is affected by mitochondrial disease, she would pass it on to all of her children in generation 2. Since it is not so, and only male children are affected this could be an x linked inheritance.

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