法医学杂志

法医学杂志 ›› 2015, Vol. 31 ›› Issue (6): 436-440.DOI: 10.3969/j.issn.1004-5619.2015.06.006

• 论著 • 上一篇    下一篇

外显子组测序对1例青壮年猝死的分子遗传学分析

王  纯1，王  辉2，许心舒3，许传超4，赖小平4，陈  锐4，林汉光4，邱升元4   

  1. 1. 成都体育学院，四川 成都 610041； 2. 许昌市公安局刑事科学技术研究所，河南 许昌 461002； 3. 广州市刑事科学技术研究所，广东 广州 510030； 4. 广东医学院，广东 东莞 523808
  • 发布日期:2015-12-25 出版日期:2015-12-28
  • 通讯作者: 许传超，男，博士，讲师，主要从事分子遗传学研究；E-mail：xcchao5855@sina.com
  • 作者简介:王纯（1961—），女，教授，主要从事运动性猝死和运动医学研究；E-mail：993279039@qq.com
  • 基金资助:

    2011年四川省科技基础条件平台项目；广东省科技计划项目（2011B080701097）

Molecular Genetic Analysis of One Sudden Unexplained Death in the Young by Whole Exome Sequencing

WANG CHUN1, WANG HUI2, XU XIN-SHU3, XU CHUAN-CHAO4, LAI XIAO-PING4, CHEN RUI4, LIN HAN-GUANG4, QIU SHENG-YUAN4   

  1. 1. Chengdu Sport University, Chengdu 610041, China; 2. Institute of Criminal Science and Technology, Xuchang Public Security Bureau, Xuchang 461002, China; 3. Guangzhou Institute of Criminal Science and Technology, Guangzhou 510030, China; 4. Guangdong Medical College, Dongguan 523808, China
  • Online:2015-12-25 Published:2015-12-28

被引次数

2

摘要： 目的 以1例青壮年不明原因猝死综合征（sudden unexplained death syndrome，SUDS）案例为研究对象，采用全外显子组测序技术，在全外显子组水平寻找与SUDS相关的致病基因突变。 方法 对1例常规尸体解剖及病理学检验未发现明显致死性病理改变的SUDS病例样本，利用Ion Torrent PGMTM系统进行全外显子组测序。测序数据以hg19为参照序列，并通过PhyloP、PolyPhen2、SIFT等软件进行突变功能分析。最后设置三重条件过滤筛选有意义的单核苷酸变异：选取错义突变-等位基因频率<1%-蛋白质功能预测。 结果 共发现4个罕见的可疑致病性单核苷酸变异。结合尸体解剖及病理学检验的结果，确定1个“高危害性”突变MYOM2（8_2054058_G/A）。PolyPhen2、SIFT的预测均为“有害”。 结论 利用二代测序技术进行全外显子组水平的基因突变检测和分析，可以为SUDS病例的死因分析提供新的方法和思路。MYOM2基因新可能是SUDS的致病基因，但其具体机制仍需进一步研究。

关键词: 法医遗传学, 法医病理学, 突变, 不明原因猝死综合征, 全外显子组测序

Abstract: Objective To find the mutation of disease-causing genes of sudden unexplained death syndrome （SUDS） in the young by whole exome sequencing in one case. Methods One SUDS case was found no obvious fatal pathological changes after conventional autopsy and pathological examination. The whole exome sequencing was performed with the Ion Torrent PGMTM System with hg19 as reference sequence for sequencing data. The functions of mutations were analyzed by PhyloP, PolyPhen2 and SIFT. A three-step bioinformatics filtering procedure was carried out to identify possible significative single nucleotide variation （SNV）, which was missense mutation with allele frequency <1% of myocardial cell. Results Four rare suspicious pathogenic SNV were identified. Combined with the analysis of conventional autopsy and pathological examination, the mutation MYOM2 （8_2054058_G/A） was assessed as high-risk deleterious mutation by PolyPhen2 and SIFT, respectively. Conclusion Based on the second generation sequencing technology, analysis of whole exome sequencing can be a new method for the death cause investigation of SUDS. The gene MYOM2 is a new candidate SUDS pathogenic gene for mechanism research.

Key words: forensic genetics, forensic pathology, mutation, sudden unexplained death syndrome, whole exome sequencing

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