title: [Mutations in genes affecting fertility of men - current routine laboratory genetic diagnostics and searching for more DNA segments and genes influencing spermatogenesis].
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.
  
  
  METHODS
  Original article.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.forename: I
authors.initials: I
authors.lastname: Hrdlička
authors.forename: B
authors.initials: B
authors.lastname: Chylíková
authors.forename: K
authors.initials: K
authors.lastname: Veselá
authors.forename: M
authors.initials: M
authors.lastname: Danková
authors.forename: M
authors.initials: M
authors.lastname: Janků
authors.forename: K
authors.initials: K
authors.lastname: Řežábek
authors.forename: R
authors.initials: R
authors.lastname: Mihalová
authors.forename: F
authors.initials: F
authors.lastname: Liška
mesh_terms: D006239:Haplotypes; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007248:Infertility, Male / Q000209:etiology*; D008297:Male; D013091:Spermatogenesis / Q000235:genetics*; D033921:Vesicular Transport Proteins
chemical_list: D018398:Homeodomain Proteins; C474264:SPATA16 protein, human; D033921:Vesicular Transport Proteins
keywords: AGFG1 gene; CAPZA3 gene; CNTROB gene; GOPC gene SPATA16 gene.; HOOK1 gene; X-chromosome microdeletions; male infertility