title: Analysis of Y chromosome microdeletions and CFTR gene mutations as genetic markers of infertility in Serbian men.
abstract: OBJECTIVE
  Impaired fertility of a male partner is the main cause of infertility in up to one half of all infertile couples. At the genetic level, male infertility can be caused by chromosome aberrations or gene mutations. The presence and types of Y chromosome microdeletions and cystic fybrosis transmembrane conductance regulator (CFTR) gene mutations as genetic cause of male infertility was tested in Serbian men. The aim of this study was to analyze CFTR gene mutations and Y chromosome microdelations as potential causes of male infertility in Serbian patients, as well as to test the hypothesis that CFTR mutations in infertile men are predominantly located in the several last exons of the gene.
  
  
  METHODS
  This study has encompassed 33 men with oligo- or azoospermia. The screening for Y chromosome microdeletions in the azoospermia factor (AZF) region was performed by multiplex PCR analysis. The screening of the CFTR gene was performed by denaturing gradient gel electrophoresis (DGGE) method.
  
  
  RESULTS
  Deletions on Y chromosome were detected in four patients, predominantly in AZFc region (four of total six deletions). Mutations in the CFTR gene were detected on eight out of 66 analyzed chromosomes of infertile men. The most common mutation was F508del (six of total eight mutations).
  
  
  CONCLUSIONS
  This study confirmed that both Y chromosome microdeletions and CFTR gene mutations played important role in etiology of male infertility in Serbian infertile men. Genetic testing for Y chromosome microdeletions and CFTR gene mutations has been introduced in routine daignostics and offered to couples undergoing assisted reproduction techniques. Considering that both the type of Y chromosome microdeletion and the type of CFTR mutation have a prognostic value, it is recomended that AZF and CFTR genotyping should not only be performed in patients with reduced sperm quality before undergoing assisted reproduction, but also for the purpose of preimplantation and prenatal diagnostics in couples in which in vitro fertilization has been performed successfully.
authors.affiliation: Institute of Molecular Genetics and Genetic Engineering, Belgrade.
authors.forename: Jelena
authors.initials: J
authors.lastname: Dinić
authors.forename: Jelena
authors.initials: J
authors.lastname: Kusić
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Nikolić
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Divac
authors.forename: Momcilo
authors.initials: M
authors.lastname: Ristanović
authors.forename: Dragica
authors.initials: D
authors.lastname: Radojković
mesh_terms: D053713:Azoospermia / Q000235:genetics; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D009845:Oligospermia / Q000235:genetics; D012729:Sex Chromosome Aberrations
chemical_list: D005819:Genetic Markers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator