Hemizygote

Zygosity (the noun, zygote, is from the Greek zygotos 'yoked,' from zygon 'yoke') (/zaɪˈɡɒsɪti/) is the degree of similarity of the alleles for a trait in an organism. Zygosity (the noun, zygote, is from the Greek zygotos 'yoked,' from zygon 'yoke') (/zaɪˈɡɒsɪti/) is the degree of similarity of the alleles for a trait in an organism. Most eukaryotes have two matching sets of chromosomes; that is, they are diploid. Diploid organisms have the same loci on each of their two sets of homologous chromosomes except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes may be mismatched as part of a chromosomal sex-determination system. If both alleles of a diploid organism are the same, the organism is homozygous at that locus. If they are different, the organism is heterozygous at that locus. If one allele is missing, it is hemizygous, and, if both alleles are missing, it is nullizygous. The DNA sequence of a gene often varies from one individual to another. Those variations are called alleles. While some genes have only one allele because there is low variation, others have only one allele because deviation from that allele can be harmful or fatal. But most genes have two or more alleles. The frequency of different alleles varies throughout the population. Some genes may have two alleles with equal distribution. For other genes, one allele may be common, and another allele may be rare. Sometimes, one allele is a disease-causing variation while the other allele is healthy. Sometimes, the different variations in the alleles make no difference at all in the function of the organism. In diploid organisms, one allele is inherited from the male parent and one from the female parent. Zygosity is a description of whether those two alleles have identical or different DNA sequences. In some cases the term 'zygosity' is used in the context of a single chromosome. The words homozygous, heterozygous, and hemizygous are used to describe the genotype of a diploid organism at a single locus on the DNA. Homozygous describes a genotype consisting of two identical alleles at a given locus, heterozygous describes a genotype consisting of two different alleles at a locus, hemizygous describes a genotype consisting of only a single copy of a particular gene in an otherwise diploid organism, and nullizygous refers to an otherwise-diploid organism in which both copies of the gene are missing. A cell is said to be homozygous for a particular gene when identical alleles of the gene are present on both homologous chromosomes. The cell or organism in question is called a homozygote. True breeding organisms are always homozygous for the traits that are to be held constant. An individual that is homozygous-dominant for a particular trait carries two copies of the allele that codes for the dominant trait. This allele, often called the 'dominant allele', is normally represented by a capital letter (such as 'P' for the dominant allele producing purple flowers in pea plants). When an organism is homozygous-dominant for a particular trait, the genotype is represented by a doubling of the symbol for that trait, such as 'PP'. An individual that is homozygous-recessive for a particular trait carries two copies of the allele that codes for the recessive trait. This allele, often called the 'recessive allele', is usually represented by the lowercase form of the letter used for the corresponding dominant trait (such as, with reference to the example above, 'p' for the recessive allele producing white flowers in pea plants). The genotype of an organism that is homozygous-recessive for a particular trait is represented by a doubling of the appropriate letter, such as 'pp'. A diploid organism is heterozygous at a gene locus when its cells contain two different alleles (one wild-type allele and one mutant allele) of a gene. The cell or organism is called a heterozygote specifically for the allele in question, and therefore, heterozygosity refers to a specific genotype. Heterozygous genotypes are represented by a capital letter (representing the dominant/wild-type allele) and a lowercase letter (representing the recessive/mutant allele), such as 'Rr' or 'Ss'. Alternatively, a heterozygote for gene 'R' is assumed to be 'Rr'. The capital letter is usually written first.