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Heterozygosity values of 51 worldwide human populations. [10] Sub-Saharan Africans have the highest values in the world. In population genetics, the concept of heterozygosity is commonly extended to refer to the population as a whole, i.e., the fraction of individuals in a population that are heterozygous for a particular locus. It can also ...
The loss of heterozygosity is a common occurrence in cancer development. Originally, a heterozygous state is required and indicates the absence of a functional tumor suppressor gene copy in the region of interest.
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 ...
Heterozygosity is the fraction of individuals in a population that are heterozygous for a particular locus. Alleles per locus is also used to demonstrate variability. Nucleotide diversity is the extent of nucleotide polymorphisms within a population, and is commonly measured through molecular markers such as micro- and minisatellite sequences ...
One can modify this definition and consider a grouping per sub-population instead of per individual. Population geneticists have used that idea to measure the degree of structure in a population. Unfortunately, there is a large number of definitions for , causing some confusion in the scientific literature. A common definition is the following:
This point always has a lower heterozygosity (y value) than the corresponding (in allele frequency p) Hardy-Weinberg equilibrium. In population genetics, the Wahlund effect is a reduction of heterozygosity (that is when an organism has two different alleles at a locus) in a population caused by subpopulation structure.
Mean heterozygosity is calculated as the probability of a mutation occurring at a given generation divided by the probability of any "event" at that generation (either a mutation or a coalescence). The probability that the event is a mutation is the probability of a mutation in either of the two lineages: 2 μ {\displaystyle 2\mu } .
Cases of both homozygote and heterozygote advantage have been demonstrated in several organisms, including humans. [8] [9] The first experimental confirmation of heterozygote advantage was with Drosophila melanogaster, a fruit fly that has been a model organism for genetic research.