title: DNA analysis of Y chromosomal AZF region in Slovak population with fertility disorders.
abstract: BACKGROUND
  The Y chromosome is characterized by a low number of functional genes, relatively high number of repetitive sequences and the ability of recombination purely by short arms of telomeres PAR1 and PAR2. The long arm contains an AZF region with genes participating in spermatogenesis. Microdeletions of three subregions, namely AZFa,b,c and their mutual combinations are responsible for male infertility and the resulting azoospermia and oligospermia.
  
  
  OBJECTIVE
  The aim of this study based on evaluating 822 patients during a period of ten years was to analyse types of microdeletions in men with fertility disorders in Slovakia.
  
  
  METHODS
  For detecting the microdeletions in Y-chromosomal AZF region and for identifying the Y-specific sequences we used PCR while using three different sets of sY sequences.
  
  
  METHODS
  We reported 38 cases of deletions in AZF region, namely 18 cases when using the first set of sequences, 12 cases when using the second set, and finally 8 cases when using the third set. When using the last set of sequences according to the European Academy of Andrology and European Molecular Genetics Quality Network, we detected deletions only in patients with azoospermia. In addition to deletions in each of AZF a,b,c subregions we recorded also a complete deletion of the whole AZF region. In the AZFa subregion, we recorded a deletion of sequence sY86.
  
  
  CONCLUSIONS
  The study has confirmed that the detection of microdeletions of AZF region is significant from the diagnostic and prognostic views (Tab. 5, Ref. 21). Full Text in free PDF www.bmj.sk.
authors.affiliation: Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, Bratislava, Slovakia.
authors.forename: R
authors.initials: R
authors.lastname: Behulova
authors.forename: L
authors.initials: L
authors.lastname: Strhakova
authors.forename: I
authors.initials: I
authors.lastname: Boronova
authors.forename: A
authors.initials: A
authors.lastname: Cibulkova
authors.forename: M
authors.initials: M
authors.lastname: Konecny
authors.forename: L
authors.initials: L
authors.lastname: Danisovic
authors.forename: V
authors.initials: V
authors.lastname: Repiska
mesh_terms: D000328:Adult; D053627:Asthenozoospermia / Q000235:genetics; D053713:Azoospermia / Q000235:genetics; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D056426:Genetic Loci; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000235:genetics; D029589:Seminal Plasma Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D018154:Slovakia
chemical_list: D029589:Seminal Plasma Proteins