The gene, AR, for the human androgen receptor is located within the Xq11-12 area of the X chromosome. Effects of the AIS mutations behave as sex-linked recessive traits, causing minimal or no effects in 46,XX women. In other words, since 46,XX women have two X chromosomes, and hence two copies of the gene for the androgen receptor, no problems occur if one of the genes is defective. Since a 46,XY person has only a single X chromosome, a deleterious mutation of the androgen receptor gene on ...

See also:

Androgen insensitivity syndrome, Androgen insensitivity syndrome - Genetics, inheritance, and incidence, Androgen insensitivity syndrome - Normal function of androgens and the androgen receptor, Androgen insensitivity syndrome - Prenatal effects of testosterone in 46, XY fetus, Androgen insensitivity syndrome - Early postnatal effects of testosterone in 46, XY infants, Androgen insensitivity syndrome - Pubertal effects of testosterone in 46, XY children, Androgen insensitivity syndrome - Problems produced by androgen insensitivity, Androgen insensitivity syndrome - 1. Complete AIS, Androgen insensitivity syndrome - 2. Incomplete or partial AIS, Androgen insensitivity syndrome - 3. Reifenstein syndrome, Androgen insensitivity syndrome - 4. Infertile male syndrome, Androgen insensitivity syndrome - 5. Undervirilized fertile male syndrome, Androgen insensitivity syndrome - 6. X-linked spinal and bulbar atrophy syndrome

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