X-linked

Sex linkage is the phenotypic expression of an allele related to the allosome (sex chromosome) of the individual. In autosomal chromosomes both sexes have the same probability of existing (see Fisher's principle), but since humans have many more genes on the female X chromosome than on the male Y chromosome, these are much more common than Y-linked traits.

In mammals, the female is homogametic, with two X chromosomes (XX), while the male is the heterogametic sex, with one X and one Y chromosome (XY). Genes on the X or Y chromosome are called sex-linked. In ZW sex-determination system used by birds the opposite is true: the male is the homogametic sex (ZZ), and the female is heterogametic (ZW).

X-linked recessive traits are expressed in all heterogametics, but are only expressed in those homogametics that are homozygous for the recessive allele. For example, an X-linked recessive allele in humans causes haemophilia, which is much more common in males than females because they are hemizygous (see zygosity) and therefore express the trait when they inherit one mutant allele. In contrast, a female must inherit two mutant alleles, a less frequent event since the mutant allele is rare in the population.

The incidence of recessive X-linked phenotypes in females is the square of that in males (squaring a proportion less than one gives an outcome closer to 0 than the original). If 1 in 20 males in a human population are red-green color blind, then 1 in 400 females in the population are expected to be color-blind (¹/₂₀)*(¹/₂₀). (The term 'color-blind' is not completely accurate. There are degrees of weakness in color vision and it is now called 'color vision deficiency'.)

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