title: [Detection of the mutation of all the exons of the CFTR gene in Chinese men with congenital bilateral absence of the vas deferens].
abstract: OBJECTIVE
  To assess the necessity of detecting the gene of cystic fibrosis transmembrane conductance regulator factor (CFTR) in Chinese men with congenital bilateral absence of the vas deferens (CBAVD).
  
  
  METHODS
  We detected the mutation of all the 27 exons of the CFTR gene in 9 patients with CBAVD by DNA sequencing, and compared the results using NCBI and Cystic Fibrosis Mutation Database.
  
  
  RESULTS
  Four novel missense mutations/variants were found in the CFTR gene of the CBAVD patients, which were submitted and accepted in the Cystic Fibrosis Mutation Database.
  
  
  CONCLUSIONS
  There are mutations or variants in the CFTR gene in Chinese men with CBAVD, and the mutational distribution is different from that in Westerners.
authors.affiliation: Department of Reproduction, Shengjing Hospital of China Medical University, Shenyang, Liaoning 110004, China.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Du
authors.forename: Yuan-Yuan
authors.initials: YY
authors.lastname: Fang
authors.forename: Yong-Feng
authors.initials: YF
authors.lastname: Pan
authors.forename: Bo-Chen
authors.initials: BC
authors.lastname: Pan
authors.forename: Yong-Sheng
authors.initials: YS
authors.lastname: Song
authors.forename: Bin
authors.initials: B
authors.lastname: Wu
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons; D005838:Genotype; D006801:Humans; D008297:Male; D052801:Male Urogenital Diseases / Q000235:genetics*; D009154:Mutation; D014649:Vas Deferens / Q000002:abnormalities
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator