| 无精子症及严重少精子症患者Y染色体AZF微缺失及点突变的研究 |
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| 引用本文： | 肖晓素,卢丽华,王晋,王勇强,王田园,贺蓉,刘晓翌.无精子症及严重少精子症患者Y染色体AZF微缺失及点突变的研究[J].中国优生与遗传杂志,2008,16(10). |
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| 作者姓名： | 肖晓素 卢丽华 王晋 王勇强 王田园 贺蓉 刘晓翌 |
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| 作者单位： | 北京大学深圳医院检验科遗传室 北京大学深圳医院综合科 |
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| 基金项目： | 广东省深圳市科技局科研项目 |
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| 摘 要： | 目的通过对无精子症和严重少精子症患者Y染色体AZF微缺失的检测,确定AZF微缺失的发生率及高发位点;同时,对正常生育男性、无精子症及严重少精子症患者进行sY254、sY255点突变检测,从分子水平探讨精子发生的机制,建立基因型与表型的关系。方法多重PCR技术对Y染色体上AZF 4个区域内的15个序列标签位点进行微缺失检测,采用SSCP方法进行sY254、sY255点突变检测;结果无精子症和严重少精子症患者Y染色体AZF微缺失率分别为9.80%和9.68%,显著高于少精子症组的3.34%(P<0.05);其中sY152、sY239、sY243、sY254、sY255在Y染色体上的位置相互毗邻,其联合缺失39例,占总缺失率的65.0%,AZFb+AZFd+AZFc联合缺失的有8人,占总缺失的13.3%;本研究中,正常生育男性、无精子症及严重少精子症患者均未发现sY254、sY255的点突变。结论Y染色体AZF微缺失是导致无精子症和严重少精子症的重要因素,sY152、sY239、sY243、sY254、sY255联合缺失是AZF的缺失热点;未发现sY254、sY255点突变。
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| 关 键 词： | 无精子因子 微缺失 单链构象多态性 |
An investigation on AZF microdeletion and mutation in patients with azoospermia and severe oligozoospermia |
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| XIAO Xiao-su,LU Li-hua,WANG Jin,WANG Yong-qiang,WANG Tian-yuan,HE Rong,LIU Xiao-yi.An investigation on AZF microdeletion and mutation in patients with azoospermia and severe oligozoospermia[J].Chinese Journal of Birth Health & Heredity,2008,16(10). |
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| Authors: | XIAO Xiao-su LU Li-hua WANG Jin WANG Yong-qiang WANG Tian-yuan HE Rong LIU Xiao-yi |
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| Affiliation: | XIAO Xiao-su1; LU Li-hua1; WANG Jin2; WANG Yong-qiang1; WANG Tian-yuan1; HE Rong1; LIU Xiao-yi1.(1.Laboratory of Genetics; Medicine Laboratory 2.Dept.of Comprehensive; Shenzhen Hospital of Peking University; Shenzhen; Guangdong; 518036; China); |
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| Abstract: | Objective: To investigate the rate and hot spot of AZF microdeletion,And to investigate the mutation of sY254 and sY255 in patients with azoospermia and severe oligozoospermia.Methods: To detect the microdeletion of AZF by multiplex PCR using Y-chromosome specific sequence tagged sites(STSs),and to detect the mutation of sY254 and sY255 by Single-strand conformation polymorphism(SSCP).Results: Rates of AZF microdeletion of azoospermia and severe oligozoospermia were 9.80% and 9.68%respectively,which were si... |
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| Keywords: | Azoospermia factor Microdeletion Single-strand conformation polymorphism |
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