title: [Analysis of androgen receptor gene mutation in complete androgen insensitivity syndrome in a Uygur family].
abstract: OBJECTIVE
  To identify the mutation of androgen receptor (AR) gene in a Uygur family with complete androgen insensitivity syndrome and elucidate its pathogenesis.
  
  
  METHODS
  Two males with pseudohermaphroditism in this family were clinically diagnosed complete androgen insensitivity syndrome and by polymerase chain reaction (PCR) and DNA sequencing, we checked possible mutation of all exons and its splice site in AR gene. Two males with pseudohermaphroditism in this family were clinically diagnosed as complete androgen insensitivity syndrome and confirmed by PCR and DNA sequencing. And the possible mutations of all exons and splice sites in AR gene were examined.
  
  
  RESULTS
  A proband and another family member had c.2157G > A, p.W719X nonsense mutation of AR gene and their mother was a mutation carrier of AR gene. Substitution (G- > A) at position 2 157 of exon 4 of AR resulted in mutation (TGG- > TGA) at codon 719 (termination codon). The nonsense mutation led to a truncation of 202 amino acids in AR protein. The mutations were absent in other family members.
  
  
  CONCLUSIONS
  The nonsense mutation at AR gene W719X, a confirmed cause of disease, is first-ever found in Chinese, especially Uygur population.
authors.affiliation: Department of Endocrinology, Pepole' Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830000, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Endocrinology, Pepole' Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830000, China.
authors.forename: Yanying
authors.initials: Y
authors.lastname: Guo
authors.affiliation: Department of Endocrinology, Pepole' Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830000, China.
authors.forename: Lan
authors.initials: L
authors.lastname: Wu
authors.affiliation: Department of Endocrinology, Pepole' Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830000, China.
authors.forename: Xiangxin
authors.initials: X
authors.lastname: Song
authors.affiliation: Department of Endocrinology, Pepole' Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830000, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Endocrinology, Pepole' Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830000, China.
authors.forename: Yunzhi
authors.initials: Y
authors.lastname: Luo
authors.affiliation: Department of Endocrinology, Pepole' Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830000, China; Email: wangxinling@medmail.com.cn.
authors.forename: Xinling
authors.initials: X
authors.lastname: Wang
mesh_terms: D013734:Androgen-Insensitivity Syndrome; D001483:Base Sequence; D005091:Exons; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011944:Receptors, Androgen; D017422:Sequence Analysis, DNA
chemical_list: C410798:AR protein, human; D011944:Receptors, Androgen