[Mutations in genes affecting fertility of men - current routine laboratory genetic diagnostics and searching for more DNA segments and genes influencing spermatogenesis]. / Mutace v genech ovlivnujících plodnost muzu - soucasná rutinní laboratorní genetická diagnostika a hledání dalsích úseku DNA a genu, ovlivnujících spermatogenezi.

ABSTRACT

OBJECTIVE: To present the results of molecular genetics analysis in men with reproductive disorders focusing on the DNA segments and genes which affect spermatogenesis. DESIGN: Original article. SETTING: Institute of Biology and Medical Genetics of the First Faculty of Medicine and General Teaching Hospital, Prague. METHODS: One hundred and twenty-three patients identified with a fertility disorder were screened for mutations of the CFTR gene. In all patients were performed cytogenic analysis and assessment of Y-chromosome microdeletions. In 107 patients where the fertility was not detected by routine examination we performed an analysis for X-chromosome microdeletions (CNV64, CNV67, CNV69) and in certain genes necessary for normal spermatogenesis (AGFG1, CAPZA3, CNTROB, HOOK1, GOPC, SPATA16). RESULTS: Our results did not reveal any negative efffects of X-chromosome microdeletion on spermatogenesis. Analysis of six genes showed in two patients in gene SPATA16 a homozygotic haplotype [1526C>T + 1577T>C] which can be most probably responsible for the fertility in two examined patients. CONCLUSION: According to our results we do not recommend introduction of X-chromosome microdeletions assays in areas CNV64 , CNV67 and CNV69 into routine diagnostic. Regarding the selected genes affecting spermatogenesis, our results showed that homozygotic haplotype [ 1526C>T + 1577T>C] in SPATA16 gene is very likely responsible for infertility in two of our patients. The above mentioned haplotype deserves attention in the investigation of male infertility.