窖蛋白基因变异及多态性与不明原因猝死的相关性  

Correlation between Genetic Variants and Polymorphism of Caveolin and Sudden Unexplained Death

作　　者：午方宇 唐新华 盖连磊[3] 孔小平[4] 郝博[1] 黄二文[1] 石河 盛立会[6] 权力[1] 刘水平[1] 罗斌[1] WU Fang-yu TANG Xin-hua GAI Lian-lei KONG Xiao-ping HAO Bo HUANG Er-wen SHI He SHENG Li-hui QUAN Li LIU Shui-ping LUO Bin(Department of Forensic Medicine, Zhongshan Medical College, Sun Yat -sen University, Guangzhou 510080, China Dongyuan Public Security Bureau, Dongyuan 517500, China Huangpu Branch of Guangzhou Municipal Public Security Bureau, Guangzhou 510530, China Panyu Branch of Guangzhou Municipal Public Security Bureau, Guangzhou 511430, China Institute of Criminal Science and Tech-nology, Guangzhou Municipal Public Security Bureau, Guangzhou 510030, China Institute of Criminal Science and Technology, Shemhen Municipal Public Security Bureau, Shenzhen 518008, China)

机构地区：[1]中山大学中山医学院法医学系,广东广州510080 [2]东源县公安局,广东东源517500 [3]广州市公安局黄埔区分局,广东广州510530 [4]广州市公安局番禺区分局,广东广州511430 [5]广州市公安局刑事科学技术研究所,广东广州510030 [6]深圳市公安局刑事科学技术研究所,广东深圳518008

出　　处：《法医学杂志》2017年第2期114-119,128,共7页Journal of Forensic Medicine

基　　金：国家自然科学基金资助项目(81430046;81671866);十二五国家重大科技攻关项目(2012BAK02B002);广东省自然科学基金自由申请项目(2016A030313223);上海市法医学重点实验室开放课题资助项目(2013KF1307)

摘　　要：目的寻求窖蛋白(caveolin,CAV)基因变异位点,探讨其与不明原因猝死(sudden unexplained death,SUD)的相关性。方法收集SUD组(71例)、冠状动脉疾病(coronary artery disease,CAD)组(62例)和对照组(60例)血样,分别提取基因组DNA,采用PCR方法扩增CAV1与CAV3基因编码区及外显子-内含子拼接区,进行直接测序,以明确CAV基因的遗传变异类型,并进行统计学分析。结果在SUD组中共检测到4个可能有意义的变异位点,其中2个为新发现的突变位点,分别为CAV1:c.45C>T(T15T)和CAV1:c.512G>A(R171H);2个为SNP位点,分别为CAV1:c.246C>T(rs35242077)和CAV3:c.99C>T(rs1008642),且这两个SNP位点的基因型频率和等位基因频率在SUD组与对照组中差异具有统计学意义(P<0.05),在CAD组中均未发现上述变异位点。结论部分SUD可能与CAV1和CAV3基因变异存在一定相关性。Objective To explore the genetic variation sites of caveolin （CAV） and their correlation with sudden unexplained death （SUD）. Methods The blood samples were collected from SUD group （71 cases）, coronary artery disease （CAD） group （62 cases） and control group （60 cases）, respectively. The genome DNA were extracted and sequencing was performed directly by amplifying gene coding region and exonintron splicing region of CAV1 and CAV3 using PCR. The type of heritable variation of CVA was con-firmed and statistical analysis was performed. Results A total of 4 variation sites that maybe significa-tive were identified in SUD group, and two were newfound which were CAV1： c.45C〉T （T15T） and CAVl： c.5l2G〉A （R171H）, and two were SNP loci which were CAV1 ： c.246C〉T （rs35242077） and CAV3 ： c.990T （rs 1008642） and had significant difference （P〈0.05） in allele and genotype frequencies between SUD and control groups. Forementioned variation sites were not found in CAD group. Conclu-sion The variants of CAV1 and CAV3 may be correlated with a part of SUD group.

关 键 词：法医病理学 法医遗传学 猝死 心脏 不明原因猝死 窖蛋白 基因突变 单核苷酸多态性 

分 类 号：R595.7[医药卫生—内科学]