title: [Molecular diagnosis for a patient with Kennedy disease].
abstract: OBJECTIVE
  To screen for potential mutations of androgen receptor (AR) gene in a patient clinically diagnosed as Kennedy disease.
  
  
  METHODS
  Polyglutamine expansion (PQE) induced by a duplication of CAG trinucleotide tandem-repeat in exon 1 of the AR gene was detected with PCR and T-clone sequencing.
  
  
  RESULTS
  Compared with the number of CAG repeat of 22 in the normal allele, the number of CAG repeats has increased to 45 in the mutant allele carried by the patient. This has fit with the diagnostic criteria for Kennedy disease.
  
  
  CONCLUSIONS
  A mutation of PQE has been detected in the patient with Kennedy disease. Detection of PQE in AR gene can be used as reliable method to identify the Kennedy disease.
authors.affiliation: Institute of Basic Medical Sciences Chinese Academy of Medical Sciences School of Basic Medicine Peking Union Medical College, Beijing 100005, P. R. China. xiulizhao@ibms.pumc.edu.cn.
authors.forename: Jianqiang
authors.initials: J
authors.lastname: Tan
authors.forename: Shuaiwu
authors.initials: S
authors.lastname: Huang
authors.forename: Han
authors.initials: H
authors.lastname: Wang
authors.forename: Ren
authors.initials: R
authors.lastname: Cai
authors.forename: Xiuli
authors.initials: X
authors.lastname: Zhao
mesh_terms: D001483:Base Sequence; D055534:Bulbo-Spinal Atrophy, X-Linked / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D003402:Creatine Kinase / Q000097:blood; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D011944:Receptors, Androgen / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion
chemical_list: D011944:Receptors, Androgen; D003402:Creatine Kinase