遗传性心律失常猝死的分子解剖研究现状及展望

遗传性心律失常所致猝死的死因鉴定是法医病理学领域亟待解决的难题之一。近年来心律失常易感基因/突变的发现和高通量组学技术的推广,使得利用分子遗传学方法筛查猝死的遗传学病因（即＂分子解剖＂）成为可能。本文通过汇总心律失常分子遗传研究的进展,综述传统遗传分析和近期全基因组关联性研究（GWAS）筛查的结果,为心源性猝死的＂分子解剖＂研究提供候选基因列表;并进一步比较针对不明原因猝死所开展的回顾性＂分子解剖＂筛查的结果,探讨新技术在该领域的应用前景。这一综述有助于更好的认识心律失常所致猝死的分子机制,并为借助新一代遗传分析技术进行分子解剖提供有益参考。

The present situation and prospects of study on molecular autopsy of sudden death caused by genetic arrhythmia

It is one of the urgent problems in forensic pathology to identify the cause of death caused by inherited arrhythmia.In recent years,along with the discovery of candidate genes and（ or） mutations related to arrhythmia,it is possible to screen for the diseasecausing mutations in negative autopsy of Sudden Cardiac Death（ SCD）.This review presents the progress of genetic sannings for genetic changes related to inherited arrhythmia and lists the potential genes which could be used in molecular autopsy.The application of molecular techniques in identifying the genetic causes of SCD was summarized,and it can provides a useful clue to perform molecular autopsy with the new genetic techniques.It is one of the urgent problems in forensic pathology to identify the cause of death caused by inherited arrhythmia.In recent years,along with the discovery of candidate genes and（ or） mutations related to arrhythmia,it is possible to screen for the diseasecausing mutations in negative autopsy of sudden cardiac death（ SCD）.This review presents the progress of genetic sannings for genetic changes related to inherited arrhythmia and lists the potential genes which could be used in molecular autopsy.The application of molecular techniques in identifying the genetic causes of SCD was summarized,and it can provides a useful clue to perform molecular autopsy with the new genetic techniques.