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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.
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 ...
Homozygous and heterozygous. Zygosity (the noun, zygote, is from the Greek zygotos "yoked," from zygon "yoke") (/ z aɪ ˈ ɡ ɒ s ɪ t i /) is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism.
In 16 cancers Pms2 was deficient even though MLH1 protein expression was present. Of these 16 cases, no cause was determined for 10, but 6 were found to have a heterozygous germline mutation in Pms2, followed by likely loss of heterozygosity in the tumor. Thus only 6 of 119 tumors lacking expression for Pms2 (5%) were due to mutation of PMS2.
Hypomorphic describes a mutation that causes a partial loss of gene function. [1] A hypomorph is a reduction in gene function through reduced (protein, RNA) expression or reduced functional performance, but not a complete loss. The phenotype of a hypomorph is more severe in trans to a deletion allele than when homozygous. [2] m/DF > m/m
However, convincing evidence indicates, in areas with persistent malaria outbreaks, individuals with the heterozygous state have a distinct advantage (and this is why individuals with heterozygous alleles are far more common in these areas). [13] [14] Those with the benign sickle trait possess a resistance to malarial infection. The pathogen ...
A loss in heterozygosity refers to the loss of one of two versions—or alleles—of a gene. If one of the lost alleles helps to suppress tumors, like the gene for the retinoblastoma protein for example, then the loss of heterozygosity can lead to cancer. [107]: 1236
Self-fertilization results in the loss of genetic variation within an individual (offspring), because many of the genetic loci that were heterozygous become homozygous. This can result in the expression of harmful recessive alleles , which can have serious consequences for the individual.