Congenital adrenal hyperplasia (CAH) is an inborn error of metabolism with impairment of the biosynthesis of steroid hormones. Five different enzymatic abnormalities resulting in CAH are known. The most common form of CAH is the 21hydroxylase deficiency (21-OH-def). This disease is transmitted by an autosomal recessive gene. We have recently shown that the 21-OH-def gene is closely linked to HLA-B, and this finding has been confirmed by two other groups of investigators. In this article, we present data on studies of two HLA-linked polymorphic traits, Bf (factor B) and GLO (glyoxalase I), in families of patients with 21-OH-def. The studies demonstrate that the 21-OH-def gene can be separated from the GLO locus by recombination. No informative recombination between HLA-B and 21-OH-def has yet been identified. Three intra-HLA recombinant families have demonstrated that the 21-OH-def gene can be separated from the HLA-A locus. The 21-OH-def gene can accordingly be mapped on the sixth chromosome between HLA-A and GLO, and the gene is most likely located very close to the HLA-B locus.
|Idioma original||English (US)|
|Número de páginas||3|
|Estado||Published - 1978|
|Publicado de forma externa||Sí|
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