土耳其不育男性Y染色体上AZF微缺失

Canan Figen Sargın , Sibel Berker-Karaüzüm , Esra Manguoğlu , Tibet Erdoğru , Şeyda Karaveli , Kemal Hakan Gülkesen , Mehmet Baykara , Güven Lüleci
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引用次数: 36

摘要

Yq11.23区域的区间V和VI包含负责精子发生的基因,被命名为“无精子症因子位点”(AZF)。这些基因的缺失被认为与一些与无精子症或少精子症相关的男性不育症有关。本研究的目的是确定无精子症或少精子症的不育土耳其男性Y染色体微缺失的患病率。我们应用多重聚合酶链反应(PCR)使用多个序列标记位点(STS)引物集,以确定Y染色体微缺失。本研究选取61名不育男性进行AZF分子筛选。在这个队列中,一名不育男性的核型为46xx,其余的核型为46xy。48例诊断为无精子症,13例诊断为少精子症。60例(3.3%)正常核型的特发性不育男性中有2例检测到AZFa、AZFb和AZFc (DAZ基因)区域的微缺失,46xx例男性检测到SRY易位。我们的研究结果表明,在开始辅助生殖治疗之前,应建议不育男性进行遗传筛查。
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AZF microdeletions on the Y chromosome of infertile men from Turkey

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.

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