Abstract
A dose genetic linkage exist between the HLA complex (especially HLA-B), and the 21 hydroxylase deficiency form of adrenal hyperplasia. By their polymorphisms HLA antigens can be used as "markers" to follow the segregation of 21-OH deficiency in families, to diagnose the heterozygous offspring and eventually to offer a prenatal diagnosis to couples at risk. In late onset forms of 21-OH deficiency the same genetic linkage has been demonstrated with a high frequency of HLA-B14 antigen.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adrenal Hyperplasia, Congenital* / diagnosis
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Adrenal Hyperplasia, Congenital* / genetics*
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Adrenal Hyperplasia, Congenital* / immunology
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Female
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Genetic Carrier Screening
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Genetic Linkage*
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HLA Antigens / genetics*
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Humans
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Male
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Pedigree
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Polymorphism, Genetic
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Pregnancy
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Prenatal Diagnosis
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Steroid 21-Hydroxylase / genetics
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Steroid Hydroxylases / deficiency*
Substances
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HLA Antigens
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Steroid Hydroxylases
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Steroid 21-Hydroxylase