Canan Figen Sargın , Sibel Berker-Karaüzüm , Esra Manguoğlu , Tibet Erdoğru , Şeyda Karaveli , Kemal Hakan Gülkesen , Mehmet Baykara , Güven Lüleci
{"title":"AZF microdeletions on the Y chromosome of infertile men from Turkey","authors":"Canan Figen Sargın , Sibel Berker-Karaüzüm , Esra Manguoğlu , Tibet Erdoğru , Şeyda Karaveli , Kemal Hakan Gülkesen , Mehmet Baykara , Güven Lüleci","doi":"10.1016/j.anngen.2003.09.002","DOIUrl":null,"url":null,"abstract":"<div><p><span>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 </span>Y chromosome<span><span><span><span> in infertile Turkish males with azoospermia or oligozoospermia. We applied multiplex polymerase chain reaction (PCR) using several </span>sequence-tagged site<span> (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 </span></span>46,XX<span> 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%) </span></span>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.</span></p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 1","pages":"Pages 61-68"},"PeriodicalIF":0.0000,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.09.002","citationCount":"36","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annales de Génétique","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0003399503000728","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 36
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.