title: Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens.
abstract: BACKGROUND
  In several populations CFTR mutations, as well as IVS8-Tn CFTR polymorphism, have been associated with congenital bilateral absence of the vas deferens (CBAVD) and idiopathic obstructive azoospermia diseases. However, the involvement of these mutations in infertility of Mexican males has not been elucidated.
  
  
  OBJECTIVE
  We investigated whether CFTR mutations and IVS8-Tn(TG)m polymorphisms are associated with infertility in azoospermic Mexican patients.
  
  
  METHODS
  Sixteen CBAVD and 33 idiopathic azoospermic cases were included. The CFTR gene was sequenced in all CBAVD cases. In the idiopathic azoospermic patients, the p.F508del, p.G542X, p.N1303K, p.S549N, p.I507del, and p.R117H mutations and those detected in our CBAVD cases were screened.
  
  
  RESULTS
  The p.F508del, p.G85E, p.D1152H, and p.W1089X mutations were found in 3 CBAVD patients (18.8%). None of the 9 CFTR mutations screened for in idiopathic azoospermic were found; however, we documented a high frequency of the Gln1463Gln polymorphism in comparison with healthy controls (20% vs 6%; p=0.0029).
  
  
  CONCLUSIONS
  These data showed that the CFTR mutations but not the IVS8-Tn polymorphism are involved in CBAVD etiology in a Mexican population. Nevertheless, other screening strategies should be used to rule out the implication of CFTR mutations in idiopathic azoospermic disease.
authors: Genomic of Complex Diseases Laboratory, Instituto Nacional de Medicina Genómica, SS, Mexico City, Mexico.
authors: Yolanda
authors: Y
authors: Saldaña-Alvarez
authors: Silvia
authors: S
authors: Jiménez-Morales
authors: Mirna
authors: M
authors: Echevarría-Sánchez
authors: Juan Luis
authors: JL
authors: Jiménez-Ruíz
authors: Ricardo
authors: R
authors: García-Cavazos
authors: Rafael
authors: R
authors: Velázquez-Cruz
authors: Alessandra
authors: A
authors: Carnevale
authors: Lorena
authors: L
authors: Orozco
mesh_terms: D053713:Azoospermia / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D052801:Male Urogenital Diseases / Q000235:genetics*; D008800:Mexico; D009154:Mutation; D017422:Sequence Analysis, DNA; D014649:Vas Deferens / Q000002:abnormalities
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator