Use of Ethnicity-Specific Sequence Tag Site Markers for Y Chromosome Microdeletion Studies

Sachdeva K; Saxena R; Majumdar AChadda SVerma IC

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Use of Ethnicity-Specific Sequence Tag Site Markers for Y Chromosome Microdeletion Studies

机译：使用Ethnicity-Specific序列标签的网站标记Y染色体Microdeletion研究

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Introduction: Microdeletions in the azoospermia factor region on the long arm of Y chromosome are associated with spermatogenic failure. There are many markers for the diagnosis of Y chromosome microdeletion analysis, but in routine practice only a limited set of markers can be tested. Objective: The objectives of this study were to determine the frequency of Y chromosome microdeletion in idiopathic cases of male infertility in India, to attempt genotype-phenotype correlation, and to evaluate whether markers to be tested for diagnosis of Y chromosome microdeletion should be ethnicity specific. Methods: Microdeletions in the Y chromosome were analyzed in 200 infertile males. The six sequence tag site (STS) markers prescribed by the European Academy of Andrology (EAA) were used initially. Patients in whom no deletions were detected by use of these markers were tested by markers selected from other studies from India. Results: The STS markers prescribed by EAA detected deletions in only 6 (3%) of 200 infertile males. However, markers selected from previous Indian studies showed deletions in an additional 15 (7.5%) of infertile males. Overall, Y chromosome microdeletions were observed in 21 (10.5%) of 200 patients. Of these, 13 were cases of azoospermia and 8 were cases of severe oligospermia. Conclusion: The markers prescribed by EAA alone are not suitable for the diagnosis of Y chromosome microdeletions in infertile males. The protocol for identification of Y chromosome microdeletions in cases of nonobstructive azoospermia/severe oligospermia would have to include a different set of STS markers.

机译：作品简介:精子缺乏的微小缺失因素地区Y染色体的长臂上与精子发生的失败。许多的Y染色体的诊断标志物microdeletion分析,但在日常实践只有一组有限的标记能被测试。摘要目的:本研究的目标确定Y染色体的频率microdeletion特发性情况下的男性不孕症在印度,尝试genotype-phenotype相关性和评估是否标记为Y的诊断测试染色体microdeletion应该种族具体。染色体分析200年不育男性。六个序列标签网站(STS)标记欧洲规定男科学学院(EAA)最初被使用。删除被发现使用这些标记被标记选择从其他测试吗研究来自印度。规定监管局发现只有6中删除200年(3%)的男性不育。选择从先前印度研究显示删除额外的15(7.5%)的生育能力男性。21(10.5%)的200名患者中观察到。13例精子缺乏和8例严重的精子减少。监管局规定仅是不适合的诊断中微小缺失的Y染色体男性不育。Y染色体微小缺失的病例影像学上精子缺乏/严重的精子减少必须包括一组不同的针吗标记。

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《Genetic testing and molecular biomarkers》 |2011年第6期|451-459|共9页
作者
Sachdeva K; Saxena R; Majumdar AChadda SVerma IC;
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作者单位

Molecular Genetics Laboratory, Centre of Medical Genetics, Sir Ganga Ram Hospital affiliated through Guru Gobind Singh IndraprasthaUniversity, New Delhi, India;

In Vitro Fertilization Unit, Centre for Human Reproduction Sir Ganga Ram Hospital, New Delhi, India;

Department of Urology, Sir Ganga Ram Hospital, New Delhi, IndiaCentre of Medical Genetics, Sir Ganga Ram Hospital affiliated through Guru Gobind Singh Indraprastha University, New Delhi, India;

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正文语种英语
中图分类 Q-028;
关键词
Y Chromosome; male; Y chromosome deletionsmale fertilitymale infertilityInjectionsIndiadeletionsInfertility;

机译：Y Chromosome次;Y Chromosome deletionsmalefertilitymale;

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Use of Ethnicity-Specific Sequence Tag Site Markers for Y Chromosome Microdeletion Studies

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