title: [Dilemma of the results interpretation of molecular genetic analysis with a focus on CFTR gene mutations in men with reproductive disorders and in gamete donors].
abstract: OBJECTIVE
  The presentation of the results of molecular genetics analysis in men with reproductive disorders and in gamete donors with a focus on interpretation of the results CFTR gene analysis.
  
  
  METHODS
  Original article.
  
  
  METHODS
  Institute of Biology and Medical Genetics of the First Faculty of Medicine and General Teaching Hospital.
  
  
  METHODS
  We examined 164 men with reproductive disorders for 36 selected mutations in CFTR gene including T(n) polymorphism and for Y chromosome microdeletions. As well we examined mutations in CFTR gene including T(n) polymorphism in 104 gamete donors.
  
  
  RESULTS
  We detected microdeletions in AZF region in 3 cases of affected men and in other 3 casses we found mutation F508del (heterozygotes) in CFTR gene with T5 variant in trans position. Except this we detected in 5 affected men "only" heterozygous mutations in CFTR gene and in 12 men "only" the T5 variant in heterozygous level. Among gamete donors we found 3 heterozygotes for mutation F508del and 11 heterozygotes for T5 variant.
  
  
  CONCLUSIONS
  In infertile men and in gamete donors we recommend to examine not only the "classical" mutations in CFTR gene but also the relatively frequent T5 variant, which can be in certain conditions considered as a pathogenic mutation. It's necessary to rule out the carriers of T5 variation from gamete donors.
authors.affiliation: Ustav biologie a lékarské genetiky 1. LF UK a VFN, Praha. hrdlickai@seznam.cz
authors.forename: I
authors.initials: I
authors.lastname: Hrdlicka
mesh_terms: D041322:Chromosomes, Human, Y / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D056426:Genetic Loci; D006579:Heterozygote; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic; D029589:Seminal Plasma Proteins / Q000235:genetics*; D014019:Tissue Donors
chemical_list: D029589:Seminal Plasma Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator