Molecular screening for Yq microdeletion in men with idiopathic oligozoospermia and azoospermia
Molecular screening for Yq microdeletion in men with idiopathic oligozoospermia and azoospermia
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DOI：
10.1007/bf02706215
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发表时间：
2003-03-01
影响因子：
2.9
通讯作者：
Kucheria, K
中科院分区：
文献类型：
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作者：
Dada, R;Gupta, NP;Kucheria, K
不孕症影响了15%的试图怀孕的夫妇，其中40-50%的男性伴侣精子产生质量或数量异常。已知Y染色体长臂上无精子因子（AZF）区域的微缺失与生精失败相关，并已用于定义Yq上的三个区域（AZFa、AZFb和AZFc），这三个区域对精子发生至关重要，并且在不育男性中反复缺失。本文对125例少精子症和无精子症不育男性进行了精液分析。对所有病例进行细胞遗传学分析，并在所有细胞遗传学正常的病例（n = 83）中使用PCR对从外周血提取的DNA进行微缺失分析。序列标记位点（STS）引物sY 84、sY 86（AZFa）; sY 127、sY 134（AZFb）; sY 254、sY 255（AZFc）用于每种情况。83例中有8例（9.63%）至少有一个STS标记缺失。在每种情况下进行表型与微缺失的相关性，以确定与特定AZF基因座缺失的任何表型关联。根据目前的研究，印度人群中微缺失的频率为9.63%。本研究强调需要PCR分析，以确定遗传病因的情况下，特发性严重睾丸病。
Infertility affects 15% couples attempting pregnancy and in 40-50% of these cases the male partner has qualitative or quantitative abnormalities of sperm production. Microdeletions in the azoospermia factor (AZF) region on the long arm of the Y chromosome are known to be associated with spermatogenic failure and have been used to define three regions on Yq (AZFa, AZFb and AZFc) which are critical for spermatogenesis and are recurrently deleted in infertile males. Semen analysis was carried out on one hundred and twenty five infertile males with oligozoospermia and azoospermia. Cytogenetic analysis was done for all the cases and in all cytogenetically normal cases (n = 83) microdeletion analysis was carried out on DNA extracted from peripheral blood using PCR. The sequence tagged sites (STS) primers sY84, sY86 (AZFa); sY127, sY134 (AZFb); sY254, sY255 (AZFc) were used for each case. Eight of the eighty three cases (9.63%) showed deletion of at least one of the STS markers. Correlation of phenotype with microdeletion was done in each case to determine any phenotype association with deletion of particular AZF locus. Based on the present study, the frequency of microdeletion in the Indian population is 9.63%. This study emphasizes the need for PCR analysis for determining genetic aetiology in cases with idiopathic severe testiculopathy.