先天性肾上腺增生症—11β-羟化酶缺乏症的分子遗传学研究进展

Progress in molecular-genetic researches on congenital adrenal hyperplasia—11β-hydroxylase deficiency

11β-羟化酶缺乏症是引起先天性肾上腺增生症的主要病因之一,由编码该酶的CYP11B1基因突变引起。经典型11β-羟化酶缺乏症中cYP11B1基因的突变引起酶活性的减低或缺失,但11β-羟化酶缺乏症的基因型和表现型之间关系尚不明确。

11β-hydroxylase deficiency is one of the main causes of congenital adrenal hyperplasia （CAH）, which is caused by the mutation of CYP11 β1 gene that encodes the enzyme. Researches have shown that mutations of CYP11β1 gene would result in decreased activity or inactivation of the enzyme in classical 11β- hydroxylase deficiency, and their relationship between genotype and phenotype of 11β-hydroxylase deficiency is not clear.