法医学杂志

法医学杂志 ›› 2014, Vol. 30 ›› Issue (1): 27-30，35.DOI: 10.3969/j.issn.1004-5619.2014.01.006

• 论著 • 上一篇    下一篇

中国汉族人群不明原因猝死与NOS1AP基因多态性的相关性

黄京璐1，郝  博1，王小广1，刘  宏2，李  明1，权  力1，盛立会4，刘  超2，罗  斌1，3   

  1. （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. 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； 4. 深圳市公安局刑事科学技术研究所，广东 深圳 518000）
  • 发布日期:2014-02-25 出版日期:2014-02-28
  • 通讯作者: 罗斌，男，博士，主任法医师，主要从事法医病理学心性猝死研究；E-mail：luobin@mail.sysu.edu.cn
  • 作者简介:黄京璐（1988—），女，广东深圳人，硕士，主要从事法医病理学研究；E-mail：hjlu@mail2.sysu.edu.cn
  • 基金资助:

    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）

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

HUANG JING-LU1, HAO BO1, WANG XIAO-GUANG1, LIU HONG2, LI MING1, QUAN LI1, SHENG LI-HUI4, LIU CHAO2, LUO BIN1,3   

  1. （1. Department of Forensic Pathology, Zhongshan Medical College, Sun Yat-sen University, Guangzhou 510080, China; 2. Institute of Criminal Science and Technology, Guangzhou Public Security Bureau, Guangzhou 510030, China; 3. Shanghai Key Laboratory of Forensic Medicine, Institute of Forensic Science, Ministry of Justice, Shanghai 200063, China; 4. Institute of Criminal Science and Technology, Shenzhen Public Security Bureau, Shenzhen 518000, China）
  • Online:2014-02-25 Published:2014-02-28
  • Contact: 刘超，男，博士，主任法医师，主要从事法医DNA检验与研究；E-mail：liuchaogaj@21cn.com

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。

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

Abstract: 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.

Key words: forensic genetics, forensic pathology, polymorphism, single nucleotide, sudden unexpected death, NOS1AP gene

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