在法医检案过程中存在一些猝死病例,通过系统尸体解剖及毒物检测，死因仍不明确，此类病例统称猝死综合征（SUDS ），其死亡机制一直以来是法医学实践中亟待研究解决的难题之一。申请人前期在部分SUDS病例中（西方人群）发现了心肌桥粒蛋白PKP2基因突变，且可以导致心肌缝隙连接蛋白43（Cx43）蛋白表达异常，而心肌Cx43蛋白表达异常易导致心律失常甚至猝死的发生。本项目拟扩大SUDS病例种群范围（中国人群）进行五个桥粒蛋白基因突变检测（PKP2、DSP、DSG2、DSC2、JUP），同时通过人体心肌细胞来检测验证从西方人群SUDS及中国人群SUDS中筛选出的桥粒蛋白基因突变对心肌Cx43蛋白及心肌细胞电生理的影响，以期阐明桥粒蛋白基因突变可以导致SUDS的发生，从而为合理解释SUDS死亡机制提供新的可靠的客观依据，同时初步分析比较桥粒蛋白基因突变在在西方人群SUDS与中国人群SUDS中的差异。

Sudden unexplain death syndrome（SUDS）refers to sudden death without specific reason. It's very hard for medical examiner to identify the cause of death of SUDS.Our previous studies have found some desomomal gene （PKP2）mutations in cases of SUDS,and these PKP2 mutations could lead to an abnormal expression of Connexin 43 (Cx43)protein.Cx43 is the major component of cardiac gap junctions,change in Cx43 expression and distribution can result in ventricular arrhythmia and even sudden cardiac death . The purpose of this project is to screening variation in all desomomal gene(PKP2、DSP、DSG2、DSC2、JUP) in Western SUDS and Chinese SUDS , and to further explore whether the desomomal gene mutations found in SUDS could cause Cx43 remodeling and have effect on electrophysiology of myocardium by generating desomomal gene mutant constructs ,so as to further determine the desomomal gene mutations are closely related to SMDS, provide new candidate genes for molecular autopsy of SUDS.