title: [A novel mutation Glu441stop (GAA to TAA) of androgen receptor gene resulting in complete androgen insensitivity syndrome].
abstract: OBJECTIVE
  To identify the mutation of human androgen receptor gene (AR) in a patient with complete androgen insensitivity syndrome (CAIS).
  
  
  METHODS
  DNA sequences of 8 exons and their exon/intron boundaries of the AR gene in the patient were amplified by PCR and directly sequenced.
  
  
  RESULTS
  DNA sequencing revealed a nonsense mutation in exon 1, resulting in a change of codon 441 GAA (glutamic acid) to a stop codon (TAA).
  
  
  CONCLUSIONS
  A novel mutation Glu441stop (GAA to TAA) of the androgen receptor gene leading to complete androgen insensitivity syndrome was identified in this study in a Chinese patient. It may help us further understanding the pathogenesis of CAIS.
authors.affiliation: Center for Prenatal Diagnosis, Shenzhen Maternal & Children Health Care Hospital, Shenzhen, Guangdong, 518028 P. R. China.
authors.forename: Fu-wei
authors.initials: FW
authors.lastname: LUO
authors.forename: Wei-qing
authors.initials: WQ
authors.lastname: WU
authors.forename: Qian
authors.initials: Q
authors.lastname: GENG
authors.forename: Fang
authors.initials: F
authors.lastname: LI
authors.forename: Wu-bing
authors.initials: WB
authors.lastname: CHEN
authors.forename: Wan-xia
authors.initials: WX
authors.lastname: GAN
authors.forename: Jian-sheng
authors.initials: JS
authors.lastname: XIE
mesh_terms: D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D001483:Base Sequence; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011944:Receptors, Androgen / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: C410798:AR protein, human; D011944:Receptors, Androgen