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The words homozygous, heterozygous, and hemizygous are used to describe the genotype of a diploid organism at a single locus on the DNA. Homozygous describes a genotype consisting of two identical alleles at a given locus, heterozygous describes a genotype consisting of two different alleles at a locus, hemizygous describes a genotype consisting of only a single copy of a particular gene in an ...
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
The hypothesis states that inbreeding increases the amount of overall homozygosity—not just locally in the MHC, so an increase in genetic homozygosity may be accompanied not only by the expression of recessive diseases and mutations, but by the loss of any potential heterozygote advantage as well. [17] [2] Animals only rarely avoid inbreeding ...
A heterozygote advantage describes the case in which the heterozygous genotype has a higher relative fitness than either the homozygous dominant or homozygous recessive genotype. Loci exhibiting heterozygote advantage are a small minority of loci. [1] The specific case of heterozygote advantage due to a single locus is known as overdominance.
Imprinting is one example of disassortative mating. A model shows that individuals imprint on a genetically transmitted trait during early ontogeny and choosy females later use those parental images as a basis of mate choice. A viability-reducing trait may be maintained even without the fertility cost of same-type matings. [5]
(For example, Df(E1)/Df(GN50) in Stowers, et al. 2000 [3]). By way of example, transheterozygote (heteroallelic combination) can result from a cross between two organisms with genotypes AA* and AA', where A is the wild type allele of a given gene, and A* and A' are two different mutant alleles of that gene.
When a heterozygote creates gametes by meiosis, the alleles normally duplicate and end up in a 2:2 ratio in the resulting 4 cells that are the direct products of meiosis. However, in gene conversion, a ratio other than the expected 2A:2a is observed, in which A and a are the two alleles. Examples are 3A:1a and 1A:3a.
The classical example of such a loss of protecting genes is hereditary retinoblastoma, in which one parent's contribution of the tumor suppressor Rb1 is flawed. Although most cells will have a functional second copy, chance loss of heterozygosity events in individual cells almost invariably lead to the development of this retinal cancer in the ...