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Zygosity is an important factor in human medicine. If one copy of an essential gene is mutated, the (heterozygous) carrier is usually healthy. However, more than 1,000 human genes appear to require both copies, that is, a single copy is insufficient for health. This is called haploinsufficiency. [8]
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 ...
A transheterozygote is a diploid organism that is heterozygous at two different loci (genes). Each of the two loci has one natural (or wild type) allele and one allele that differs from the natural allele because of a mutation. Such an organism can be created by crossing together two organisms that carry one mutation each, in two different ...
Originally, a heterozygous state is required and indicates the absence of a functional tumor suppressor gene copy in the region of interest. However, many people remain healthy with such a loss, because there still is one functional gene left on the other chromosome of the chromosome pair.
[2] [3] Overdominance is a rare [4] condition in genetics where the phenotype of the heterozygote lies outside of the phenotypical range of both homozygote parents, and heterozygous individuals have a higher fitness than homozygous individuals.
Epistasis is when the phenotype of one gene is affected by one or more other genes. [21] This is often through some sort of masking effect of one gene on the other. [ 22 ] For example, the "A" gene codes for hair color, a dominant "A" allele codes for brown hair, and a recessive "a" allele codes for blonde hair, but a separate "B" gene controls ...
Monohybrid, also called “single gene test cross”, is used to observe how homozygous offspring express heterozygous genotypes inherited from their parents. The implantation of monohybrid crossing includes signifying the alleles by using characters – recessive allele often is indicated with a lower-case letter, and the dominant allele is ...
The cream gene is responsible for a number of horse coat colors. Horses that have the cream gene in addition to a base coat color that is chestnut will become palomino if they are heterozygous, having one copy of the cream gene, or cremello, if they are homozygous. Similarly, horses with a bay base coat and the cream gene will be buckskin or ...