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. DESIGN: Original article. SETTING: 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. CONCLUSION: 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.

Ustav biologie a lékarské genetiky 1 LF UK a VFN Praha