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. 1982;43(1):3-14.

[Genetic of the 21 hydroxylase deficiency]

[Article in French]
  • PMID: 6982657

[Genetic of the 21 hydroxylase deficiency]

[Article in French]
A Boué et al. Ann Endocrinol (Paris). 1982.

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.

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