title: [A novel deletion mutation in AR gene causes complete androgen insensitivity syndrome in a Chinese family].
abstract: OBJECTIVE
  To identify the mutation of the androgen receptor (AR) gene in a complete androgen insensitivity family.
  
  
  METHODS
  DNA was extracted from peripheral blood samples from family members in the family. PCR and DNA sequencing were then employed to detect the mutation of AR gene.
  
  
  RESULTS
  A single nucleotide deletion of nucleotide A in exon 4 of the AR gene (1910delA) was detected in all the three patients in this family, which lead to Asn637Ile and Lys638stop. This mutation was also found in the mother (heterozygote) but was not observed in the normal controls.
  
  
  CONCLUSIONS
  The 1910delA mutation of the AR gene is a novel mutation that leads to complete androgen insensitivity syndrome.
authors.affiliation: Department of Nephrology, State Key Laboratory of Biotherapy, West China Hospital, West China Medical School, Sichuan University, Chengdu, Sichuan, P.R. China.
authors.forename: Linlin
authors.initials: L
authors.lastname: Yue
authors.forename: Ping
authors.initials: P
authors.lastname: Wu
authors.forename: Zengliang
authors.initials: Z
authors.lastname: Xia
authors.forename: Chunyuan
authors.initials: C
authors.lastname: Fan
authors.forename: Qingjie
authors.initials: Q
authors.lastname: Xia
mesh_terms: D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D011944:Receptors, Androgen / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D055815:Young Adult
chemical_list: D011944:Receptors, Androgen