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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 ...
An organism that has two different alleles for a gene is said to be heterozygous for that gene (and is called a heterozygote). Mendel hypothesized that allele pairs separate randomly, or segregate, from each other during the production of the gametes in the seed plant ( egg cell ) and the pollen plant ( sperm ).
However, the offspring that are produced by hybrid pairs (one EGI and one wild type) have a heterozygous pair of both the PTA and resistance genes and do not survive long after hatching, if they ever do as a result of the PTA's disabling effect on the gene promoter. [18]
In the example pictured to the right, RRYY/rryy parents result in F 1 offspring that are heterozygous for both R and Y (RrYy). [4] This is a dihybrid cross of two heterozygous parents. The traits observed in this cross are the same traits that Mendel was observing for his experiments. This cross results in the expected phenotypic ratio of 9:3:3:1.
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 ...
A null allele is a gene variant that lacks the gene's normal function because it either is not expressed, or the expressed protein is inactive. For example, at the gene locus for the ABO blood type carbohydrate antigens in humans, [13] classical genetics recognizes three alleles, I A, I B, and i, which determine compatibility of blood transfusions.
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.