Mutations of Desmoglein‑2 in Sudden Unexplained Death in the Chinese Han Population

作     者：Junyi Lin Yulei Yang Ziqin Zhao Yiwen Shen Kaijun Ma Mingchang Zhang 

作者机构：Department of Forensic MedicineSchool of Basic Medical SciencesFudan UniversityShanghaiChina2Shangha Key 

出 版 物：《Journal of Forensic Science and Medicine》 (法庭科学与法医学杂志（英文）)

年 卷 期：2019年第5卷第2期

页      面：61-64页

学科分类：0301[法学-法学] 1002[医学-临床医学] 1001[医学-基础医学(可授医学、理学学位)] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

基　　金：This study was funded by the National Natural Science Foundation of China(NSFC fund:81501630) the Opening Project of Shanghai Key Laboratory of Crime Scene Evidence(No.2016XCWZK20) This study was funded by the National Natural Science Foundation of China(NSFC fund:81501630) the Opening Project of Shanghai Key Laboratory of Crime Scene Evidence(No.2016XCWZK20) 

主　　题：Desmoglein‑2 desmosomal mutation sudden cardiac death sudden unexplained death 

摘      要：Sudden unexplained death(SUD)remains a puzzle in forensic ***‑2(DSG2)has been linked to arrhythmogenic right ventricular cardiomyopathy which may cause life‑threatening ventricular arrhythmias and sudden *** arrhythmias resulting in sudden death also occur in the absence of morphologic cardiac abnormalities at *** hypothesized that DSG2 mutations may be responsible for certain Chinese SUD *** sequenced all 15 exons of DSG2 in DNA extracted from postmortem heart tissues of 25 Chinese patients dying from *** primers were designed using the Primer Express 3.0 *** sequencing for both sense and antisense strands was performed with a BigDye Terminator DNA sequencing kit on a 3130 Xl Genetic *** damage prediction was made using Mutation Taster,PolyPhen,and SIFT *** 2 of 25 cases of Chinese SUD samples,two DSG2 heterozygous mutations(p.P927 L and p.T1070M)were identified,and one is probably *** concluded that DSG2 mutations may be related to the occurrence of part of SUD cases in the Chinese Han population.