title: [An acceptor-splice-site mutation responsible for complete androgen insensitivity syndrome].
abstract: OBJECTIVE
  To study the molecular mechanism of androgen insensitivity syndrome (AIS) and the relationship among androgen receptor's molecular structure, function and clinical manifestation.
  
  
  METHODS
  PCR-SSCP analysis was carried out to screen exons from B to H of androgen receptor(AR) gene in a cAIS patient for AR gene mutation; direct DNA sequencing of PCR product was performed to find out the location and the pattern of the mutation.
  
  
  RESULTS
  A newly found point mutation G(3346) to T, which is located at intron 5-exon F acceptor splice site in the AR gene, was identified.
  
  
  CONCLUSIONS
  Highly conserved GU-AG structure at splice site plays a crucial role in maintaining normal function of AR.
authors.affiliation: Department of Medical Genetics, Shanghai Medical University, Shanghai, 200032 P.R. China. JZUO@shmu.edu.cn
authors.forename: W
authors.initials: W
authors.lastname: Zhang
authors.forename: X
authors.initials: X
authors.lastname: Li
mesh_terms: D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011944:Receptors, Androgen / Q000235:genetics*
chemical_list: D011944:Receptors, Androgen