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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).
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.
These genes have maintained an unusually high level of allelic diversity throughout time and throughout different populations. This means that for each MHC gene, many alleles (or gene variants) consistently exist within the population, and many individuals are heterozygous at MHC loci (meaning they possess two different alleles for a given gene ...
Experiments in mice deficient in BLM have suggested that the mutation gives rise to cancer through a loss of heterozygosity caused by increased homologous recombination. [106] A loss in heterozygosity refers to the loss of one of two versions—or alleles —of a gene.
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 ...
Nonrandom X-inactivation leads to skewed X-inactivation. Nonrandom X-inactivation can be caused by chance or directed by genes. If the initial pool of cells in which X-inactivation occurs is small, chance can cause skewing to occur in some individuals by causing a bigger proportion of the initial cell pool to inactivate one X chromosome.
For the alleles that confer an advantage in the heterozygous and/or homozygous-dominant state, the fitness of the homozygous-recessive state may even be zero (meaning sterile or unviable offspring). An example of inbreeding depression is shown in the image. In this case, a is the recessive allele which has negative effects.
Due to unexpected high frequencies of heterozygotes, and an elevated level of heterozygote fitness, heterozygotic advantage may also be called "overdominance" in some literature. A well-studied case is that of sickle cell anemia in humans, a hereditary disease that damages red blood cells .