• PMID: 15050875
• Gene Name: DAZ1
• Condition: Infertility
• Association: The study suggest that genetic screening should be advised to infertile men before starting assisted reproductive treatments
• Mutation: AZF microdeletions
• Population size: 61
• Population details: 61 infertile
• Sex: Male
• Infertility type: Male infertility
• Associated genes: AZFa, AZFb
• Other associated phenotypes: Azoospermia, Oligozoospermia

AZF microdeletions on the Y chromosome of infertile men from Turkey

Sargin CF, Berker-Karaüzüm S, Manguo?lu E, Erdo?ru T, Karaveli S, Gülkesen KH, Baykara M, Lüleci G.

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. FAU - Sargin, Canan Figen AU - Sargin CF AD - Department of Medical Genetics, School of Medicine, Akdeniz University, Antalya 07070, Turkey. figensargin@yahoo.co.uk FAU - Berker-Karaüzüm, Sibel AU - Berker-Karaüzüm S FAU - Manguoğlu, Esra AU - Manguoğlu E FAU - Erdoğru, Tibet AU - Erdoğru T FAU - Karaveli, Seyda AU - Karaveli S FAU - Gülkesen, Kemal Hakan AU - Gülkesen KH FAU - Baykara, Mehmet AU - Baykara M