中国汉族人群不明原因猝死与NOS1AP基因多态性的相关性  

Correlation of NOS1AP Gene Polymorphisms with Sudden Unexpected Death in Chinese Han Population

作　　者：黄京璐[1] 郝博[1] 王小广[1] 刘宏[2] 李明[1] 权力[1] 盛立会[3] 刘超[2] 罗斌[1,4] 

机构地区：[1]中山大学中山医学院法医学系,广东广州510080 [2]广州市公安局刑事科学技术研究所,广东广州510030 [3]深圳市公安局刑事科学技术研究所,广东深圳518000 [4]司法部司法鉴定科学技术研究所上海市法医学重点实验室,上海200063

出　　处：《法医学杂志》2014年第1期27-30,35,共5页Journal of Forensic Medicine

基　　金：国家自然科学基金资助项目(39700167);"十二五"国家重大科技攻关项目(2012BAK02B002);上海市法医学重点实验室开放课题(2013KF1307)

摘　　要：目的研究日常活动中不明原因猝死(sudden unexpected death,SUD)者NOS1AP基因的单核苷酸多态性。方法收集60例一般日常活动中SUD病例心血样本作为SUD组,另外随机抽取80例无关个体的外周血样本作为对照组,提取基因组DNA,用特异性引物对NOS1AP部分SNP位点(rs10494366、rs10918859、rs12143842、rs12742393、rs3751284、rs348624)进行PCR扩增和直接测序,计算等位基因频率和基因型频率,并分析各SNP位点在SUD组与对照组之间的差异性。结果 NOS1AP第6外显子区域的rs3751284位点的等位基因频率和基因型频率在两组人群中的差异均有统计学意义(P<0.05)。rs3751284位点的最小等位基因的频率在SUD组为0.325,在对照组为0.475。结论 rs3751284位点可能是SUD的易感基因位点。Objective To investigate the single nucleotide polymorphism of NOS1AP gene with sudden unexpected death （SUD） during daily activities. Methods The heart blood samples were collected from 60 SUD cases in normal daily activities as SUD group and the peripheral blood samples from 80 random unrelated cases as control group. The genome DNAs from all cases were isolated and the gene sequences were analyzed from specific primers of some SNP （rs10494366, rs10918859, rs12143842, rs12742393, rs3751284, and rs348624） of NOS1AP. The allele frequency and genotype frequency were calculated and the difference in these SNP between SUD group and control group were analyzed. Results The allele frequency and genotype frequency of rs3751284 which located at the sixth exon domain had significant statistical differences between the two groups （P〈0.05）. The minor allele frequency of rs3751284 was 0.325 in SUD group and was 0.475 in control group. Conclusion rs3751284 might be a susceptibility locus for SUD.

关 键 词：法医遗传学 法医病理学 多态性 单核苷酸 不明原因猝死 NOS1AP基因 

分 类 号：DF795.2[医药卫生—法医学]