Common mutations of congenital adrenal hyperplasia are also the hotspots for new mutations.
- Author:
Qianjun ZHANG
1
;
Wen LI
;
Shuangfei LI
;
Weilin TANG
;
Luyun LI
;
Guangxiu LU
Author Information
- Publication Type:Journal Article
- MeSH: Adrenal Hyperplasia, Congenital; diagnosis; genetics; Gene Deletion; Genotype; Humans; Mutation; Point Mutation; Polymerase Chain Reaction; Steroid 21-Hydroxylase; genetics
- From: Journal of Southern Medical University 2012;32(5):669-672
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo discuss the genetic diagnosis of congenital adrenal hyperplasia (CAH) and investigate the resource of gene mutations in CAH.
METHODEnzymatic methods with restriction endonucleases that specifically recognized the mutation sites were used to detect the gene mutations in patients with CAH and their relatives. Polymerase chain reaction and direct sequencing were used to identify the mutations in 21-hydroxylase gene, and short tandem repeat (STR) typing was used to determine the sources of the mutations.
RESULTSOne CAH patient had two known mutations in 21-hydroxylase gene, namely the I2g and I172N mutations. The former mutation was inherited from the biological mother and the latter was not inherited.
CONCLUSIONThe 9 common mutations of CAH are also the hotspots for new mutations.
