Zygosity

of a human, showing a diploid set of all chromosomes, except in case of the sex chromosomes in males (bottom right), where there is an X chromosome and a much smaller Y chromosome, which does not have all the genes that the X chromosome has, making a male hemizygous for those genes. 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. Homozygous A cell is said to be homozygous for a particular gene when identical alleles of the gene are present on both homologous chromosomes. 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 the uppercase form of the letter used for the corresponding recessive trait (such as "P" for the dominant allele producing purple flowers in pea plants). When an organism is homozygous-dominant for a particular trait, its 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". Heterozygous 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 an uppercase letter (representing the dominant/wild-type allele) and a lowercase letter (representing the recessive/mutant allele), as in "Rr" or "Ss". Alternatively, a heterozygote for gene "R" is assumed to be "Rr". The uppercase letter is usually written first. If the trait in question is determined by simple (complete) dominance, a heterozygote will express only the trait coded by the dominant allele, and the trait coded by the recessive allele will not be present. In more complex dominance schemes the results of heterozygosity can be more complex. A heterozygous genotype can have a higher relative fitness than either the homozygous-dominant or homozygous-recessive genotype – this is called a heterozygote advantage. Hemizygous youngstock showing the dosage effect of the "barred" trait: periods of pigmented feather growth are shorter in the homozygous cockerel, giving a lighter overall impression; the periods are longer in the hemizygous females, giving a darker overall impression. A chromosome in a diploid organism is hemizygous when only one copy is present. Nullizygous A nullizygous organism carries two mutant alleles for the same gene. The mutant alleles are both complete loss-of-function or 'null' alleles, so homozygous null and nullizygous are synonymous. The mutant cell or organism is called a nullizygote. ==Autozygous and allozygous==

Zygosity may also refer to the origin(s) of the alleles in a genotype. When the two alleles at a locus originate from a common ancestor by way of nonrandom mating (inbreeding), the genotype is said to be autozygous. This is also known as being "identical by descent", or IBD. When the two alleles come from different sources (at least to the extent that the descent can be traced), the genotype is called allozygous. This is known as being "identical by state", or IBS. Because the alleles of autozygous genotypes come from the same source, they are always homozygous, but allozygous genotypes may be homozygous too. Heterozygous genotypes are often, but not necessarily, allozygous because different alleles may have arisen by mutation some time after a common origin. Hemizygous and nullizygous genotypes do not contain enough alleles to allow for comparison of sources, so this classification is irrelevant for them. ==Monozygotic and dizygotic twins==

As discussed above, "zygosity" can be used in the context of a specific genetic locus (example). The word zygosity may also be used to describe the genetic similarity or dissimilarity of twins. Identical twins are monozygotic, meaning that they develop from one zygote that splits and forms two embryos. Fraternal twins are dizygotic because they develop from two separate oocytes (egg cells) that are fertilized by two separate sperm. Sesquizygotic twins are halfway between monozygotic and dizygotic and are believed to arise after two sperm fertilize a single oocyte which subsequently splits into two morulae. == Medicine and disease ==

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. For instance, a single copy of the Kmt5b gene leads to haploinsufficiency and results in a skeletal muscle developmental deficit. ==Heterozygosity in population genetics==

s have the highest values in the world. In population genetics, the concept of heterozygosity is commonly extended to refer to the population as a whole, i.e., the fraction of individuals in a population that are heterozygous for a particular locus. It can also refer to the fraction of loci within an individual that are heterozygous. In an admixed population, whose members derive ancestry from two or more separate sources, its heterozygosity is proven to be at least as great as the least heterozygous source population and potentially more than the heterozygosity of all the source populations. It reflects the contributions of its multiple ancestral groups. Admixed populations show high levels of genetic variation due to the fusion of source populations with different genetic variants. Typically, the observed (H_o) and expected (H_e) heterozygosities are compared, defined as follows for diploid individuals in a population: ;Observed :H_o = \frac{\sum\limits_{i=1}^{n}{(1\ \textrm{if}\ a_{i1} \neq a_{i2})}}{n} where n is the number of individuals in the population, and a_{i1},a_{i2} are the alleles of individual i at the target locus. ;Expected : H_e = 1 - \sum\limits_{i=1}^{m}{(f_i)^2} where m is the number of alleles at the target locus, and f_i is the allele frequency of the i^{th} allele at the target locus. == See also ==