印度北部特发性不孕症的Y染色体微缺失

Rama Devi Mittal , Gunjana Singh , Aneesh Srivastava , Mandakini Pradhan , Akanchha Kesari , Annu Makker , Balraj Mittal
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引用次数: 25

摘要

无精子症因子位点(AZF)被认为包含负责精子发生的基因。在一些与无精子症或少精子症相关的男性不育病例中,这些基因的缺失被认为在病理学上涉及。本文试图确定79例无精子症和少精子症不孕北印度人Y染色体微缺失的患病率。详细的临床检查和内分泌参数也做了。对79例男性不育症患者进行了聚合酶链反应(PCR)微缺失分析。为此,从外周血中提取基因组DNA。共使用了7组引物,分别包含AZFa、AZFb和AZFc区域。79例中有5例(6.3%)的微缺失显示至少有一个STS标记缺失。缺失被发现有已知和未知的病因,至少在一个不育男性精索静脉曲张。在特发性不育男性中发现的AZF微缺失提示在非特发性病例中需要进行分子筛选。
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Y chromosome micro-deletions in idiopathic infertility from Northern India

Azoospermia factor locus (AZF) is assumed to contain the genes responsible for spermatogenesis. Deletions in these genes are thought to be pathologically involved in some cases of male infertility associated with azoospermia or oligozoospermia. An attempt was made to establish the prevalence of micro-deletions on the Y chromosome in 79 infertile North Indians with azoospermia and oligozoospermia. Detail clinical examinations as well as endocrinological parameters were also done. Polymerase chain reaction (PCR) micro-deletion analysis was done in 79 infertile men. For this, genomic DNA was extracted from the peripheral blood. Seven sets of primers were used encompassing AZFa, AZFb and AZFc regions. Micro-deletions in five of the 79 cases (6.3%) showed deletions of at least one of the STS markers. Deletions were detected with known and unknown aetiology and at least in one of the infertile male with varicocele. AZF micro-deletions seen in idiopathic infertile males suggest the need for molecular screening in non-idiopathic cases.

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