| 无精子症患者的遗传病因分析 |
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| 引用本文： | 刘晓翌,肖晓素,胡飞雪,贺蓉,杨媛慧,廖立斌.无精子症患者的遗传病因分析[J].中国优生与遗传杂志,2005,13(4):99-100. |
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| 作者姓名： | 刘晓翌 肖晓素 胡飞雪 贺蓉 杨媛慧 廖立斌 |
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| 作者单位： | 北京大学深圳医院生殖中心遗传室,广东深圳,518036 |
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| 摘 要： | 目的研究染色体异常及Y染色体AZF微缺失与无精子症的关系.方法采用G显带、C显带技术及多重PCR技术对48例无精症患者分别进行了细胞遗传学检查和Y染色体AZF微缺失检测.结果 48例无精症患者中发现染色体异常13例;多态5例;AZF微缺失7例.遗传因素引起的无精子症占整个无子精症病因的34%.结论染色体异常及Y染色体AZF微缺失是引起无精子症的重要原因,在进行无精子症的临床诊断时,遗传因素不可忽视.
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| 关 键 词： | 无精子症 染色体异常 无精子因子 微缺失 |
| 文章编号： | 1006-9534(2005)04-0099-02 |
Genetic analysis on patients with azoospermia |
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| LIU Xiao-yi,XIAO Xiao-su,HU Fei-xue,HE-rong,YANG Yuan-hui,LIAO Li-bin.Genetic analysis on patients with azoospermia[J].Chinese Journal of Birth Health & Heredity,2005,13(4):99-100. |
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| Authors: | LIU Xiao-yi XIAO Xiao-su HU Fei-xue HE-rong YANG Yuan-hui LIAO Li-bin |
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| Abstract: | Objective: To investigate the relationship between chromosomal abnormality, AZF microdeletion and azoospermia. Methods: G bingding , C banding and multiplex polymerase chain reaction(PCR) analyses were performed on 48 patients with azoospermia. Results: In the total of 48 cases, 13 were found to have chromosomal abnormality, 5 had karyotype polymorphism,7 showed AZF microdeletions. The ratio caused by genetics is 34%. Conclusion: Chromosomal abnormality and AZF microdeletion on Y chromosome is the important cause of azoospermia. It is very essential to perform the genetic analysis while making clinical diagnosis on azoospermia. |
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| Keywords: | Azoospermia Chromosomal abnormality Azoospermia factor Microdeletion |
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