title: AZF microdeletions on the Y chromosome of infertile men from Turkey.
abstract: Intervals V and VI of Yq11.23 regions contain responsible genes for spermatogenesis, and are named as "azoospermia factor locus" (AZF). Deletions in these genes are thought to be pathogenetically involved in some cases of male infertility associated with azoospermia or oligozoospermia. The aim of this study was to establish the prevalence of microdeletions on the Y chromosome in infertile Turkish males with azoospermia or oligozoospermia. We applied multiplex polymerase chain reaction (PCR) using several sequence-tagged site (STS) primer sets, in order to determine Y chromosome microdeletions. In this study, 61 infertile males were enrolled for the molecular AZF screening program. In this cohort, one infertile male had 46,XX karyotype and the remaining had 46,XY karyotypes. Forty-eight patients had a diagnosis of azoospermia and 13 had oligozoospermia. Microdeletions in AZFa, AZFb and AZFc (DAZ gene) regions were detected in two of the 60 (3.3%) idiopathic infertile males with normal karyotypes and a SRY translocation was determined on 46,XX male. Our findings suggest that genetic screening should be advised to infertile men before starting assisted reproductive treatments.
authors.affiliation: Department of Medical Genetics, School of Medicine, Akdeniz University, Antalya 07070, Turkey. figensargin@yahoo.co.uk
authors.forename: Canan Figen
authors.initials: CF
authors.lastname: Sargin
authors.forename: Sibel
authors.initials: S
authors.lastname: Berker-Karaüzüm
authors.forename: Esra
authors.initials: E
authors.lastname: Manguoğlu
authors.forename: Tibet
authors.initials: T
authors.lastname: Erdoğru
authors.forename: Seyda
authors.initials: S
authors.lastname: Karaveli
authors.forename: Kemal Hakan
authors.initials: KH
authors.lastname: Gülkesen
authors.forename: Mehmet
authors.initials: M
authors.lastname: Baykara
authors.forename: Güven
authors.initials: G
authors.lastname: Lüleci
mesh_terms: D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D015331:Cohort Studies; D005260:Female; D056426:Genetic Loci; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D029589:Seminal Plasma Proteins / Q000235:genetics*; D016324:Sequence Tagged Sites; D012729:Sex Chromosome Aberrations; D014421:Turkey
chemical_list: D029589:Seminal Plasma Proteins