title: [Identification of a novel frameshift mutation of human androgen receptor gene in a patient featuring complete androgen insensitivity syndrome].
abstract: OBJECTIVE
  To identify potential mutation of human androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS).
  
  
  METHODS
  DNA sequences of 8 exons and exon/intron boundaries of the AR gene were amplified with PCR and directly sequenced.
  
  
  RESULTS
  DNA sequencing has revealed a frameshift mutation due to deletion of nucleotide C at position 3507 in exon 6, which gave rise to a stop codon resulting premature termination for translation.
  
  
  CONCLUSIONS
  A novel frameshift mutation in exon 6 of AR gene probably underlies the disease in our patient.
authors: Zhuhai Municipal Maternal and Child Healthcare Hospital, Zhuhai, Guangdong, People's Republic of China. kdsxjh@yahoo.com.cn
authors: Jian-hong
authors: JH
authors: Xie
authors: Jing-hui
authors: JH
authors: Qu
authors: Qi-zhi
authors: QZ
authors: Xiao
authors: Yu-qiu
authors: YQ
authors: Zhou
mesh_terms: D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis* / Q000235:genetics*; D001483:Base Sequence; D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D010641:Phenotype; D011944:Receptors, Androgen / Q000235:genetics*; D055815:Young Adult
chemical_list: D011944:Receptors, Androgen