title: [Development and application of a method for molecular diagnosis of 21-hydroxylase deficiency].
abstract: OBJECTIVE
  To develop a method for elucidating genetic basis of 21-hydroxylase deficiency.
  
  
  METHODS
  Sanger sequencing of entire 21-hydroxylase coding gene CYP21A2 was carried out to detect point mutations, and multiplex ligation-dependent probe amplification (MLPA) and locus-specific PCR/enzyme restriction method were used to detect large deletions and conversion mutations.
  
  
  RESULTS
  Nine children were analyzed. Point mutations of the CYP21A2 gene have been identified as: IVS2 13A/C>G (9 alleles), p.Arg356Trp (1 allele), Cluster E6 (1 allele), p.Gln318X (1 allele), and Prom conv (1 allele). While the former 4 mutations are pathogenic, the role of Prom conv mutation in the pathogenesis was uncertain. Three cases had entire CYP21A2 gene deletions (3 alleles), three had CYP21A1P/CYP21A2 chimeric mutations (3 alleles). The genotypes of all patients were determined. And all of the mutations were inherited from parents.
  
  
  CONCLUSIONS
  A rational method for detecting point mutations and large deletions/conversions of CYP21A2 gene has been established.
authors: Nanjing Medical University, Nanjing, Jiangsu, People's Republic of China.
authors: Ding-yuan
authors: DY
authors: Ma
authors: Yun
authors: Y
authors: Sun
authors: Yulin
authors: Y
authors: Chen
authors: Bing
authors: B
authors: Yang
authors: Jian
authors: J
authors: Cheng
authors: Mei-lian
authors: ML
authors: Huang
authors: Jin
authors: J
authors: Zhang
authors: Jing-jing
authors: JJ
authors: Zhang
authors: Ping
authors: P
authors: Hu
authors: Ying
authors: Y
authors: Lin
authors: Tao
authors: T
authors: Jiang
authors: Zheng-feng
authors: ZF
authors: Xu
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005260:Female; D023061:Gene Order; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D013255:Steroid 21-Hydroxylase / Q000235:genetics
chemical_list: C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase