| 无精子和少精子症患者Y染色体精子发生相关基因检测分析 |
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| 引用本文： | 李启运,石之磷,王沙燕,王长花,胡玉华.无精子和少精子症患者Y染色体精子发生相关基因检测分析[J].中国优生与遗传杂志,2005,13(8):22-23,10. |
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| 作者姓名： | 李启运 石之磷 王沙燕 王长花 胡玉华 |
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| 作者单位： | 暨南大学医学院附二院深圳市人民医院遗传实验室,518020 |
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| 摘 要： | 目的探讨原因不明无精子症和少精子症患者与Y染色体精子发生相关基因的关系.方法对82例原因不明的无精子症和少精子症患者进行G带染色体核型分析,筛选核型正常无精子症和少精子症患者,采用多重PCR技术对Y染色体上AZF区15个序列标记位点进行检测.结果染色体核型异常16例,异常发生率为19.5%;66例核型正常无精子症和少精子症患者,有7例在Y染色体上出现不同位点基因片段微缺失,缺失率为10.6%.结论Y染色体上基因片段微缺失是造成无精子或少精子的重要原因之一,采用多重PCR技术对原因不明的无精子症和少精子症患者Y染色体精子发生相关基因进行检测分析是一种有效的好方法.
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| 关 键 词： | 无精子症 少精子症 Y染色体 |
| 文章编号： | 1006-9534（2005）08-0022-03 |
| 收稿时间： | 2005-03-04 |
| 修稿时间： | 2005-03-04 |
Detection of spermatogenesis related genes in the Y chromosome of oligospermia or azoospermia |
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| LI Qi-yun,SHI Zhi-lin,WANG Sha-yan,WANG Chang-hua,HU Yu-hua.Detection of spermatogenesis related genes in the Y chromosome of oligospermia or azoospermia[J].Chinese Journal of Birth Health & Heredity,2005,13(8):22-23,10. |
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| Authors: | LI Qi-yun SHI Zhi-lin WANG Sha-yan WANG Chang-hua HU Yu-hua |
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| Abstract: | s:Objective:To study the relationships between idiopathic oligospermia or azoospermia and spermatogenesis related genes in Y chromosome .Methods :The chromoosome G-banding results were analyzed in 82 patients with idiopathic oligospermia or azoospermia,15 Y-linked sequence-tagged sites in AZF region of patients with normal karyotype were screened by means of multiplex PCR.Results:There were 16 cases of abnormal karyotype with a incidence of 19.5%.In the 66 patients with normal karyotype,7 cases of microdeletions in different sites of Y chromosome were observed,the deletion rate was 10.6%.Conclusion:Microdeletions of the Y chromosome is an improtant reason of oligospermia or azoospermia,multiplex PCR is a useful method for detection of spermatogenesis related genes in the Y chromosome of idiopathic oligospermia or azoospermia. |
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| Keywords: | Azoospermia Oligospermia Y chromosome |
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