title: [Establishment of an allele-specific PCR method for direct screening of CYP21A2 gene mutation].
abstract: OBJECTIVE
  To establish an allele-specific PCR method for detect screening of CYP21A2 gene mutation.
  
  
  METHODS
  Allele-specific PCR primers and analogy primers were designed based on the sequence alignment of CYP21A2 and CYP21AP genes. Genomic DNA was extracted from blood specimens of 4 patients with 21-hydroxylase deficiency and 5 healthy controls and respectively amplified with allele-specific PCR primers and analogy primers and sequenced.
  
  
  RESULTS
  Mutations of CYP21A2 including IVS2-13A/C>G, Arg356Trp and Arg149Pro were found with the established method in all of the 4 patients but not in the healthy controls. When detected with the analogy primers set, IVS2-13A/C>G and Arg356Trp were observed in both patients and healthy controls.
  
  
  CONCLUSIONS
  The allele-specific PCR-based method is a simple, effective and reliable method for the detection of CYP21A2 gene mutation.
authors.affiliation: Department of Neurology, General Hospital of Guangzhou Military Command, Guangzhou, Guangdong 510010, P.R. China. liangjunc9@163.com.
authors.forename: Haiqiang
authors.initials: H
authors.lastname: Zou
authors.forename: Yan
authors.initials: Y
authors.lastname: Liu
authors.forename: Weimin
authors.initials: W
authors.lastname: Wang
authors.forename: Fenghuan
authors.initials: F
authors.lastname: Zhang
authors.forename: Baojian
authors.initials: B
authors.lastname: Zhao
authors.forename: Junchao
authors.initials: J
authors.lastname: Liang
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology* / Q000235:genetics; D000483:Alleles; D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods*; D017931:DNA Primers / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D017931:DNA Primers; C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase