法医学杂志

法医学杂志 ›› 2012, Vol. 28 ›› Issue (5): 337-341,346.DOI: 10.3969/j.issn.1004-5619.2012.05.004

• 论著 • 上一篇    下一篇

青壮年猝死综合征钾离子通道KCNQ1、KCNH2、KCNE1和KCNE2基因的变异

赵乾皓1，刘  超2，卢龙武3，吕国丽2，刘  宏2，唐双柏1，权  力1，成建定1   

  1. （1. 中山大学中山医学院法医病理学教研室，广东 广州 510080； 2. 广州市刑事科学技术研究所，广东 广州 510030； 3. 南宁市公安局刑事科学技术研究所，广西 南宁 530022）
  • 发布日期:2012-10-25 出版日期:2012-10-28
  • 通讯作者: 成建定，男，博士，教授，主要从事猝死分子病理学及细胞电生理学的法医病理学研究；E-mail：jdcheng2001@yahoo.com.cn
  • 作者简介:赵乾皓（1986—），男，浙江舟山人，硕士，主要从事法医病理学研究；E-mail：spongezhao@163.com
  • 基金资助:

    国家自然科学基金资助项目（30973367，81172901）；十二五科技支撑计划项目（2012BAK02B02）；中央高校基本科研业务费专项资金资助项目（11ykpy04）

KCNQ1, KCNH2, KCNE1 and KCNE2 Potassium Channels Gene Variants in Sudden Manhood Death Syndrome

ZHAO QIAN-HAO1, LIU CHAO2, LU LONG-WU3, L?譈 GUO-LI2, LIU HONG2, TANG SHUANG-BO1, QUAN LI1, CHENG JIAN-DING1   

  1. （1. Department of Forensic Pathology, Zhongshan Medical College, Sun Yat-sen University, Guangzhou 510080, China; 2. Guangzhou Institute of Criminal Science and Technology, Guangzhou 510030, China; 3. Institute of Criminal Science and Technology, Nanning Public Security Bureau, Nanning 530022, China）
  • Online:2012-10-25 Published:2012-10-28

被引次数

6

摘要： 目的 研究中国人青壮年猝死综合征（sudden manhood death syndrome，SMDS）病例是否存在KCNQ1、KCNH2、KCNE1和KCNE2基因的变异。 方法 应用直接测序技术对116例SMDS散发病例的血样和125例健康者血样进行KCNQ1、KCNH2、KCNE1和KCNE2基因变异的检测。 结果 发现14个突变位点，14个多态性位点，其中2个编码区的非同义突变为新发现的突变，而对照组中未发现非同义突变。 结论 中国人SMDS病例存在KCNQ1、KCNH2、KCNE1和KCNE2基因变异，这些变异可能与部分SMDS的发生相关。

关键词: 法医遗传学, 突变, 钾通道, 青壮年猝死综合征

Abstract: Objective To investigate KCNQ1, KCNH2, KCNE1 and KCNE2 gene variants in the cases of sudden manhood death syndrome （SMDS）. Methods One hundred and sixteen sporadic cases of SMDS and one hundred and twenty-five healthy controlled samples were enrolled. Genomic DNA was extracted from blood samples. Gene variants of KCNQ1, KCNH2, KCNE1 and KCNE2 were screened by direct sequencing. Results A total of 14 mutations and 14 SNP were detected. Two non-synonymous mutations of them were newfound. There was no non-synonymous mutation found in the control group. Conclusion There are KCNQ1, KCNH2, KCNE1 and KCNE2 gene variants found in Chinese SMDS cases. KCNQ1, KCNH2, KCNE1 and KCNE2 gene mutation may correlate partly with the occurrence of some cases of the SMDS in China.

Key words: forensic genetics, mutation, potassium channels, sudden manhood death syndrome

中图分类号: