title: [Common mutations of congenital adrenal hyperplasia are also the hotspots for new mutations].
abstract: OBJECTIVE
  To discuss the genetic diagnosis of congenital adrenal hyperplasia (CAH) and investigate the resource of gene mutations in CAH.
  
  
  METHODS
  Enzymatic 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.
  
  
  RESULTS
  One 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.
  
  
  CONCLUSIONS
  The 9 common mutations of CAH are also the hotspots for new mutations.
authors.affiliation: Insistitute of Reproduction and Stem Cell Engineering, Central South University, Changsha, China. zhangqianjun@csu.edu.cn
authors.forename: Qianjun
authors.initials: Q
authors.lastname: Zhang
authors.forename: Wen
authors.initials: W
authors.lastname: Li
authors.forename: Shuangfei
authors.initials: S
authors.lastname: Li
authors.forename: Weilin
authors.initials: W
authors.lastname: Tang
authors.forename: Luyun
authors.initials: L
authors.lastname: Li
authors.forename: Guangxiu
authors.initials: G
authors.lastname: Lu
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000235:genetics*; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D013255:Steroid 21-Hydroxylase