郭婷,乔斌,顾剑,张艳,王京伟,郑红云

• 1:武汉大学人民医院检验科

摘要(Abstract)：

目的:分析伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)患者NOTCH3基因分布的特点和突变率。方法:纳入183例疑似CADASIL患者，采取PCR扩增和DNA一代测序检测外周血NOTCH3基因第3、4、5、6、11、18和19外显子，并将所测序列与NOTCH3基因参考序列NG＿009819.1(NCBI GeneBank)NOTCH3进行比对分析。结果:183例疑似CADASIL患者中，NOTCH3基因突变15例，总突变率8.2%。其中第4、5、11外显子突变率分别为3.28%,1.64%,2.73%,突变构成比分别为40%,20%,33.3%;第5和18外显子联合突变率分别为0.55%,突变构成比为6.67%。本研究共检测到11种致病突变类型，分别为397C>T(0.55%)、499C>T(2.19%)、544C>T(0.55%)、709G>A(0.55%)、751T>C(0.55%)、946G>C(0.55%)、1630C>T(1.64%)、1774C>T(0.55%)、1819C>T(0.55%)和联合突变709G>A,2857G>T(0.55%)。结论:本研究为CADASIL遗传学研究贡献了新数据，补充了突变位点数据库，亦为CADASIL临床确诊提供了依据。

关键词(KeyWords)： 遗传病;伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病;NOTCH3;测序

Abstract:

Keywords:

基金项目(Foundation): 国家自然科学基金(81100959)

作者(Author): 郭婷,乔斌,顾剑,张艳,王京伟,郑红云

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