GCD 3022 Lecture Notes - Lecture 5: Lethal Allele, Overdominance, Pseudoautosomal Region

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Several inheritance patterns involving single genes differ from those observed by mendel. Wild-type alleles are defined as those that are prevalent in a population. A gene that exists in two or more wild-type alleles is an example of genetic polymorphism. Recessive alleles are often due to mutations that result in a reduction or loss of function of the encoded protein. Dominant mutant alleles are most commonly caused by gain-of-function mutations, dominant negative mutations, or haploinsufficiency. Incomplete penetrance is a situation in which an allele that is expected to be expressed is not expressed. The outcome of traits is influenced by the environment. Incomplete dominance is an inheritance pattern in which the heterozygote has an intermediate phenotype. Whether we judge an allele to be dominant or incompletely dominant may depend on how closely we examine the phenotype. Overdominance is an inheritance pattern in which the heterozygote has greater reproductive success. Most genes exist in multiple alleles in a population.

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