| 原因不明性无精症和少精症Y染色体微缺失的筛查分析 |
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| 引用本文： | 姚桂梅,陈贵安,潘天明. 原因不明性无精症和少精症Y染色体微缺失的筛查分析[J]. 中华泌尿外科杂志, 2001, 22(5): 307-309 |
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| 作者姓名： | 姚桂梅 陈贵安 潘天明 |
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| 作者单位： | 1. 100083 北京大学附属第三医院妇产科
2. 100083 北京大学附属第三医院泌尿外科 |
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| 基金项目： | 本课题受首都医学发展科研基金资助(ZD199806) |
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| 摘 要： | 目的 探讨原因不明性无精症和少精症不男性与Y染色体微缺失的关系。方法 应用多重PCR技术，对38例原因不明性无精症和少精症者（无精症11例、严重少精症9例、少精症18例）基因组DNA进行Y染色体连锁的18个序列标记位点缺失检测。结果 38例中发现Y染色体微缺失6例，缺失率为16％，其中无精症2例，严重少精症1例，少精症3例。缺失形式前两者为AZFd(DYS 237) AZFc(DAZ DYS240)，后者为AZFd(DYS237)。结论 Y染色体微缺失是原因不明性无精症和少精症的重要原因之一。采用多重PCR技术进行缺失检测，是一种非常有效的方法。
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| 关 键 词： | 不育症 男性不育症 Y染色体 微缺失 筛查 |
| 修稿时间： | 2000-06-27 |
Screening of the microdeletions in the Y chromosome of idiopathic oligospermia or azoospermia |
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| YAO Guimei,CHEN Guian,PAN Tianming. Screening of the microdeletions in the Y chromosome of idiopathic oligospermia or azoospermia[J]. Chinese Journal of Urology, 2001, 22(5): 307-309 |
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| Authors: | YAO Guimei CHEN Guian PAN Tianming |
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| Affiliation: | YAO Guimei,CHEN Guian,PAN Tianming. Department of Obstetrics and Gynecology,the Third Hospital of Peking University,Beijing 100083,China |
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| Abstract: | Objective To assess the relationships between idiopathic oligospermia or azoospermia and microdeletions in the Y chromosome. Methods 18 Y-linked sequence-tagged sites in AZF region were screened by means of multiplex PCR in 38 idiopathic oligospermia or azoospermia, including 11 azoospermia, 9 severe oligospermia, 18 oligospermia. Results Microdeletions in the genomic DNA were observed in 6 of 38 cases, 2 being in men with azoospermia,1 in severe oligospermia and 3 in oligospermia. The two formers were AZFd(DYS 237) AZFc (DAZ DYS 240),the latter was AZFd(DYS 237) in the deletion types.The total deletion rate was 16%(6/38). Conclusions Microdeletions of the Y chromosome is an important reason of idiopathic oligospermia or azoospermia . Multiplex PCR is a useful technique for detecting microdeletions. |
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| Keywords: | Infertility male Y chromosome |
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