17. Mutation, Repair, and Recombination
Types of Mutations
62PRACTICE PROBLEM
Haploinsufficiency in genetics describes a model of dominant gene action in diploid organisms, in which a single copy of the wild-type allele at a locus in a heterozygous combination with a variant allele is insufficient to produce the wild-type phenotype. What are the types of inheritance that are a result of gain-of-function mutations (i.e) the disease caused by the change in protein function (as a result of missense mutation) and a result of a mutant form of protein contributing to the formation of dimers or multimers, respectively?
Haploinsufficiency in genetics describes a model of dominant gene action in diploid organisms, in which a single copy of the wild-type allele at a locus in a heterozygous combination with a variant allele is insufficient to produce the wild-type phenotype. What are the types of inheritance that are a result of gain-of-function mutations (i.e) the disease caused by the change in protein function (as a result of missense mutation) and a result of a mutant form of protein contributing to the formation of dimers or multimers, respectively?