title: SRY and AZF gene variation in male infertility: a cytogenetic and molecular approach.
abstract: OBJECTIVE
  The aim of this study was to identify the genetic effects of Y chromosome and azoospermia factor (AZF) gene variation in men with infertility and to elucidate the molecular mechanism responsible for the identified point mutation.
  
  
  METHODS
  Chromosome analysis was performed according to standard methods on lymphocyte cultured cells and genomic DNA was extracted from the peripheral blood. Three sets of primers were used encompassing the AZFb, AZFc and SRY14 gene regions. Products were genotyped with single-strand comformational polymorphisim (SSCP) analysis.
  
  
  RESULTS
  The profiles of the mutated genes were detected in five of three azoospermic and two oligoasthenozoospermic infertile males. The SSCP variability of the AZFc gene was detected in all of the cases, while sex-determining region Y (SRY) gene variation was detected in two of the current cases. Three cases with oligoasthenozoospermia showed mutated SSCP profiles in both their SRY and AZFc gene regions. No AZFb variation was detected in the presented cases.
  
  
  CONCLUSIONS
  The AZF locus is assumed to contain the genes responsible for spermatogenesis in human. Deletions in these genes are thought to be involved in male infertility associated with azoospermia, oligozoospermia and/or both. AZF microdeletions and variations that are seen in infertile males suggest the need for molecular screening of such cases. Advance studies are also needed to detect of these variations and their relevance to male infertility before using assisted reproduction techniques in such cases.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, 58140, Turkey. ozdemiro@cumhuriyet.edu.tr
authors.forename: Ozturk
authors.initials: O
authors.lastname: Ozdemir
authors.forename: Eylem
authors.initials: E
authors.lastname: Gul
authors.forename: Hakan
authors.initials: H
authors.lastname: Kilicarslan
authors.forename: Gökhan
authors.initials: G
authors.lastname: Gokce
authors.forename: Fatma Y
authors.initials: FY
authors.lastname: Beyaztas
authors.forename: Semih
authors.initials: S
authors.lastname: Ayan
authors.forename: Ihan
authors.initials: I
authors.lastname: Sezgin
mesh_terms: D041322:Chromosomes, Human, Y; D004587:Electrophoresis, Agar Gel; D056426:Genetic Loci; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D029589:Seminal Plasma Proteins / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D051876:Sex-Determining Region Y Protein / Q000235:genetics*; D014421:Turkey
chemical_list: D029589:Seminal Plasma Proteins; D051876:Sex-Determining Region Y Protein