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Zygosity (the noun, zygote, is from the Greek zygotos "yoked," from zygon "yoke") (/ zaɪˈɡɒsɪti /) 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. Most eukaryotes have two matching sets of chromosomes; that is, they are ...
Based on the occurrence of mutation on each chromosome, we may classify mutations into three types. A wild type or homozygous non-mutated organism is one in which neither allele is mutated. A heterozygous mutation is a mutation of only one allele. A homozygous mutation is an identical mutation of both the paternal and maternal alleles.
The genotype of an organism is its complete set of genetic material. [1] Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. [2] The number of alleles an individual can have in a specific gene depends on the number of copies of each chromosome found in that species, also ...
HFE H63D gene mutation. HFE. The HFE H63D is a single-nucleotide polymorphism in the HFE gene (c.187C>G, rs1799945), which results in the substitution of a histidine for an aspartic acid at amino acid position 63 of the HFE protein (p.His63Asp). HFE participates in the regulation of iron absorption. [1][2][3]
X-linked recessive inheritance. X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.
Genotype frequency in a population is the number of individuals with a given genotype divided by the total number of individuals in the population. [2] In population genetics, the genotype frequency is the frequency or proportion (i.e., 0 < f < 1) of genotypes in a population. Although allele and genotype frequencies are related, it is ...
Runs of homozygosity (ROH) are contiguous lengths of homozygous genotypes that are present in an individual due to parents transmitting identical haplotypes to their offspring. [1] The potential of predicting or estimating individual autozygosity for a subpopulation is the proportion of the autosomal genome above a specified length, termed Froh.
Inbreeding. The passage of homozygous alleles through an inbred pedigree. Inbreeding is the production of offspring from the mating or breeding of individuals or organisms that are closely related genetically. [1] By analogy, the term is used in human reproduction, but more commonly refers to the genetic disorders and other consequences that ...