| 1000例无精子症和严重少精子症患者的Y染色体微缺失检测及分析 |
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| 引用本文： | 常亮,赵楠,高雪峰,李丹,邵敏杰,张小为.1000例无精子症和严重少精子症患者的Y染色体微缺失检测及分析[J].中国优生与遗传杂志,2010(6):29-30. |
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| 作者姓名： | 常亮 赵楠 高雪峰 李丹 邵敏杰 张小为 |
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| 作者单位： | 北京大学第三医院妇产科,北京100191 |
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| 摘 要： | 目的探讨Y染色体微缺失检测的意义。方法应用多重PCR对329例无精子症和671例严重少精子症患者行Y染色体AZFa、AZFb和AZFc基因微缺失检测。结果共检出Y染色体微缺失76例(7.6%),其中AZFc缺失60例(78.9%)。无精子症患者检出率为10%,严重少弱精子症患者检出率为6.4%,这两组缺失率有统计学意义(P0.05)。结论 AZFc缺失是最常见的缺失类型。无精子症患者Y微缺发生率较严重少精子症患者高。Y染色体微缺失检测为这类患者的遗传咨询提供重要依据。
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| 关 键 词： | 男性不育 Y染色体微缺失 遗传检测 |
Screening and analysis of the microdeletion in the Y chromosome in 1000 cases of men with azoospermia or severe oligozoospermia. |
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| Institution: | CHANG Liang, ZHAO Nan, GAO Xue -feng, LI Dan, SHAO Min -fie, ZHANG Xiao - wei. ( Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China) |
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| Abstract: | Objective： To evaluate the significance of Y microdeletion testing. Methods： AZFa, AZFb, AZFc gene in the Y chromosome were screened by means of multiplex PCR in 329 cases of men with azoospermia and 671 cases of men with oligozoospermia. Results： We identified 76 microdeletions （7.6%）, and 60 microdeletions were the AZFc deletions （78. 9% ）. 10% of azoospermic men and 6.4% of men with severe oligozoospermia harbored microdeletions. The deletion rates of azoospermia group had significant difference when compared with that of the severe oligospermia group （ P 〈0. 05 ）. Conclusions ： AZFc deletion was the most common deletion. The incidence of Y mirodeletion is higher in azoospermic men than that in severe oligozoospermia men. Y mierodeletion testing is essential for genetic counseling in these patients. |
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| Keywords: | Male infertility Y microdeletions Genetic testing |
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