title: Mutation frequency of cystic fibrosis transmembrane regulator is not increased in oligozoospermic male candidates for intracytoplasmic sperm injection.
abstract: OBJECTIVE
  To examine the frequency of anomalies of the vas deferens and the frequency of mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in male candidates for intracytoplasmic sperm injection (ICSI) who had severe oligoasthenoteratozoospermia.
  
  
  METHODS
  The clinical data for male candidates for ICSI were studied. The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (deltaF508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (deltaF508, R117H, and IVS8-5T) were analyzed. Delta I507 is also detected by the deltaF508 test. Samples of DNA from patients identified as CFTR mutation carriers were subjected to denaturing gradient gel electrophoresis analysis with use of a two-dimensional electrophoretic technique.
  
  
  METHODS
  University-based center for reproductive medicine and clinical genetics.
  
  
  METHODS
  Male candidates for ICSI who had oligoasthenoteratozoospermia and no history of operative sterilization and refertilization. Males with a chromosomal aberration or a Y-chromosome microdeletion were excluded.
  
  
  METHODS
  Semen and blood samples were collected from the patients at their first visit to the clinic.
  
  
  METHODS
  Frequency of anomalies of the vas deferens and frequency of mutations of the CFTR gene in male candidates for ICSI who had oligoasthenoteratozoospermia.
  
  
  RESULTS
  None of the patients had abnormalities of the vas deferens at physical examination. In 4 of the 150 chromosomes (75 patients), a CFTR mutation was found, yielding a CFTR mutation frequency of 2.7% (95% confidence interval, 1.0-6.7%). None of the patients had two CFTR mutations.
  
  
  CONCLUSIONS
  The frequency of congenital abnormalities of the vas deferens in patients with oligoasthenoteratozoospermia is low. The frequencies of the CFTR mutations identified in this cohort did not differ significantly from the frequencies found in the normal Dutch population.
authors.affiliation: University Hospital Nijmegen, The Netherlands. J.TUERLINGS@ANTRG.AZN.NL
authors.forename: J H
authors.initials: JH
authors.lastname: Tuerlings
authors.forename: B
authors.initials: B
authors.lastname: Mol
authors.forename: J A
authors.initials: JA
authors.lastname: Kremer
authors.forename: M
authors.initials: M
authors.lastname: Looman
authors.forename: E J
authors.initials: EJ
authors.lastname: Meuleman
authors.forename: G J
authors.initials: GJ
authors.lastname: te Meerman
authors.forename: C H
authors.initials: CH
authors.lastname: Buys
authors.forename: H M
authors.initials: HM
authors.lastname: Merkus
authors.forename: H
authors.initials: H
authors.lastname: Scheffer
mesh_terms: D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000628:therapy*; D008297:Male; D009154:Mutation; D009845:Oligospermia / Q000235:genetics*; D012189:Retrospective Studies; D014649:Vas Deferens / Q000002:abnormalities
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator