[Genetic of the 21 hydroxylase deficiency].

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.

• Authors: A Boué, P Couillin, R Pomarède, R Rappaport, J Boué
• Journal: Annales d'endocrinologie (Ann Endocrinol (Paris)) Vol. 43 Issue 1 Pg. 3-14 ( 1982) ISSN: 0003-4266 [Print] France
• Vernacular Title: Génétique du déficit en 21-hydroxylase.
• PMID: 6982657 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• HLA Antigens
• Steroid Hydroxylases
• Steroid 21-Hydroxylase

Topics

• Adrenal Hyperplasia, Congenital (diagnosis, genetics, immunology)
• Female
• Genetic Carrier Screening
• Genetic Linkage
• HLA Antigens (genetics)
• Humans
• Male
• Pedigree
• Polymorphism, Genetic
• Pregnancy
• Prenatal Diagnosis
• Steroid 21-Hydroxylase (genetics)
• Steroid Hydroxylases (deficiency)