title: [Association of CFTR gene polymorphism with congenital bilateral absence of vas deferens in ethnic Han Chinese patients].
abstract: OBJECTIVE
  To assess the association between a 5T polymorphism in intron 8 of cystic fibrosis transmembrane conductance regulator (CFTR) gene and congenital bilateral absence of vas deferens (CBAVD) in Han Chinese males.
  
  
  METHODS
  Genomic DNA from 33 individuals with CBAVD and 99 azoospermic males with CBAVD were recruited. The 5T polymorphism was detected with PCR, TA cloned and sequenced.
  
  
  RESULTS
  CFTR gene mutations were identified in 17 (51.5%) of patients with CBAVD. In 3 patients (17.6%), the mutations were identified on both alleles. Nine CFTR gene mutations (9.1%) were detected in 99 azoospermic patients, for whom none had mutations on both alleles.
  
  
  CONCLUSIONS
  This study has confirmed molecular heterogeneity of CFTR mutations in CBAVD. For CBAVD patients without 5T mutations, other changes may be found in the same gene.
authors: Family Planning Research Institute, Tongji Specialized Hospital of Reproductive Medicine, Tongji Medical School, Hua-zhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China. yptang63@hotmail.com.
authors: Li-jun
authors: LJ
authors: Liu
authors: Hong-gang
authors: HG
authors: Li
authors: Xiuli
authors: X
authors: Gu
authors: Ji-wang
authors: JW
authors: Zhu
authors: Kai
authors: K
authors: Zhao
authors: Yan-ping
authors: YP
authors: Tang
authors: Cheng-liang
authors: CL
authors: Xiong
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007438:Introns; D008297:Male; D052801:Male Urogenital Diseases / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic; D014649:Vas Deferens / Q000002:abnormalities*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator