Progress in molecular-genetic researches on congenital adrenal hyperplasia—11?-hydroxylase deficiency
- VernacularTitle:先天性肾上腺增生症—11?-羟化酶缺乏症的分子遗传学研究进展
- Author:
Su HAN
;
Hao-Ming TIAN
;
- Publication Type:Journal Article
- Keywords:
Adrenal hyperplasia;
congeintal;
Steroid 11?-hydroxylase;
Molecular genetics
- From:
Chinese Journal of Endocrinology and Metabolism
2000;0(06):-
- CountryChina
- Language:Chinese
-
Abstract:
11?-hydroxylase deficiency is one of the main causes of congenital adrenal hyperplasia (CAH),which is caused by the mutation of CYP11B1 gene that encodes the enzyme.Researches have shown that mutations of CYP11B1 gene would result in decreased activity or inactivation of the enzyme in classical 11?- hydroxylase deficiency,and their relationship between genotype and phenotype of 11?-hydroxylase deficiency is not clear.
