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The remaining copy of the tumor suppressor gene can be inactivated by a point mutation or via other mechanisms, resulting in a loss of heterozygosity event, and leaving no tumor suppressor gene to protect the body. Loss of heterozygosity does not imply a homozygous state (which would require the presence of two identical alleles in the cell).
However, because complete dominance causes the phenotypes of homozygote dominants and heterozygotes to be the same, it was not until the advent of molecular genetics from the 1960s onwards that heterozygosity in populations could be measured. F can be used to define effective population size. [further explanation needed]
RecLOH is a term in genetics that is an abbreviation for "Recombinant Loss of Heterozygosity".. This is a type of mutation which occurs with DNA by recombination.From a pair of equivalent ("homologous"), but slightly different (heterozygous) genes, a pair of identical genes results.
[21] [22] The reasons proposed for these findings are speculative; however, it has been argued that heterozygosity at MHC loci results in more alleles to fight against a wider variety of diseases, possibly increasing survival rates against a wider range of infectious diseases. [23]
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Although few imprinted genes have been identified, uniparental inheritance of an imprinted gene can result in the loss of gene function, which can lead to delayed development, intellectual disability, or other medical problems. [citation needed] The most well-known conditions include Prader–Willi syndrome and Angelman syndrome.
Now, new research finds that women who use hormone therapy after age 65 are usually fine to do just that — but the dose and timing of the treatment matter. The study, which was published in ...
Since women are mosaic models when it comes to gene expression, they tend to mask X-linked mutations by using the other X to compensate. Skewed X-inactivation resulting in the expression of the defective X chromosome can cause X-linked mutations to be expressed in women. [17] The problem occurring in IXa is a defect in phosphorylase b kinase (PHK).