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摘要：
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| 目的 探讨Nicastrin(NCSTN)基因启动子区多态性与散发阿尔茨海默病(sporadic Alzheimer's dis-ease,SAD)发病的关系及其机制.方法 用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和直接测序的方法对中国北方汉族359例SAD患者和331名正常对照者NCSTN基因启动子区单核苷酸多态性位点(SNP)进行筛查,基因分型后,进行病例对照-相关分析.构建三种不同基因型启动子质粒,通过双荧光报告基因系统检测不同启动子质粒的转录活性.结果 ①中国北方人群中的NCSTN基因启动子区ATG上游2245 bp范围内存在3个SNP:-1216C/A(rs2147471),-796T/G(rs10752637)和-436C/T(rs1324738);②-1216C/A和-796T/G的基因型频率在各自的SAD组和正常对照组中的分布差异有统计学意义;③三种启动子质粒的转录活性差异无统计.结论 NCSTN启动子区SNP:-796T/G和-1216C/A,与SAD的发病具有相关性,但未发现这两个位点具有病理学功能.
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参考文献：
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