摘要
基因突变导致的心脏离子通道疾病被认为是引起不明原因猝死的首要死因,长QT综合征作为最常见的心脏离子通道疾病之一,其致病基因突变在各类SUD中被不断报道。利用全细胞膜片钳技术进行心脏离子通道功能验证对于评估基因突变的致病性、明确SUD死者的死亡原因、筛查SUD危险人群具有重要的法医学意义。对全细胞膜片钳技术的基本原理及其在长QT综合征的发病机制与不明原因猝死研究中的应用进行综述。
Cardiac channelopathy caused by genetic mutations have been recognized as a leading cause of sudden unexplained death(SUD).Long QT syndrome is one of the most common cardiac channelopathies and its pathogenic genetic mutations have been continuously reported in various types of SUD.The functional verification of cardiac ion channel using whole-cell patch clamp techniques has important forensic significance for assessing of pathogenic of genetic mutations,identifying of cause of death of SUD and screening of risk population of SUD.This review summarizes the basic principles of whole-cell patch clamp techniques and its application in the study of pathogenesis of long QT syndrome and sudden unexplained death.
作者
舒俊杰
陈红羽
刘凯
雷普平
SHU Junjie;CHEN Hongyu;LIU Kai;LEI Puping(Judicial Expertise Center of Kunming Medicial University,Kunming Yunnan 650500;Dept.of Medical Imaging of Xinyang Central Hospital,Xinyang Henan 464000;Henan Shengde Judicial Expertise Center,Xinyang Henan 464000;Dept.of Forensic Medicine,Kunming Medical University,Kunming Yunnan 650500,China)
出处
《昆明医科大学学报》
CAS
2022年第6期154-158,共5页
Journal of Kunming Medical University
基金
国家自然科学基金资助项目(81460285,81960573)。
关键词
全细胞膜片钳技术
遗传性长QT综合征
不明原因猝死
Whole-cell patch clamp techniques
Inherited long QT syndrome
Sudden unexplained death
