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人rhd基因外显子多态性研究

, PP. 513-516

Keywords: rhd等位基因,rhd表型,外显子,聚合酶链反应-序列特异性引物,多态性

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Abstract:

目的研究人rhd基因外显子多态性,探讨中国人rhd阴性个体遗传学机制。方法用pcr-ssp法检测40例rhd(+)、120例rhd(-)和2例弱d型样本的10个外显子。结果40例rhd阳性和2例弱d型样本均检出rhd基因的10个外显子,120例rhd阴性样本中28例样本的10个外显子全存在(占23.33%),19例样本10个外显子部分存在(占15.83%),大部分为中间缺失型,73例样本10个外显子全缺失(占60.83/%)。从120例rhd阴性样本中检出的19例del型样本均能检出rhd基因的10个外显子。结论rhd表型阴性个体的rhd基因外显子结构具有多态性,主要表现为rhd基因全缺失、rhd基因部分缺失、rhd基因不缺失3种。

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