scn5a基因多态性与心脏性猝死的相关性分析-correlation between scn5a gene polymorphism and sudden cardiac death.docxVIP

目录缩略语中英文对照····································································1中文摘要···················································································2英文摘要···················································································6前言···························································································9材料与方法················································································12实验结果···················································································19讨论···························································································23结论···························································································27参考文献···················································································28综述···························································································34硕士在读期间发表及待发表的文章..............................................47致谢···························································································48主要缩略语英文对照简称英文全称中文全称SCDHCMARVCLQTSBSCPVTSNPRYR2SUNDSCTnTCTnISuddencardiacdeathHypertrophicCardiomyopathyArrhythmogenicRightVentricularCardiomyopathyLongQTsyndromeBrugadasyndromeCatecholaminergicpolymorphicventriculartachycardiaSingleNucleotidePolymorphisms,Cardiacryanodinereceptor2suddenunexpectednocturnaldeathsyndromeCardiacTroponinTCardiacTroponinI心脏性猝死肥厚性心肌病致心律失常性右心室心肌病长QT综合征Brugada综合征儿茶酚胺敏感性多态性室速单核苷酸多态位点心脏雷诺定受体2夜间猝死综合征心肌肌钙蛋白T心肌肌钙蛋白ISCN5A基因多态性与心脏性猝死的相关性研究研究生：李登新导师：朱少华副教授摘要【研究背景】心脏性猝死(Suddencardiacdeath，SCD)，是法医病理学检案和研究的重要内容。已有的研究表明，在SCD的发生的病因中冠心病占第一位，此外还有心肌炎、心肌病、先天性冠脉发育异常、风湿性心脏病、主动脉夹层等。上述疾病所引起的猝死，通过系统的尸体解剖及法医病理学检查均可以明确诊断；但仍有较多SCD发生者，通过详细的病理形态学检查不能明确死亡病因，这类案例以往被称为阴性解剖（Negativeautopsy）和不明原因的心脏性猝死（Unexplainedsuddencardiacdeath），目前认为，此类案例与致死性心律失常的发生有关，由于该类死亡心脏形态结构正常，常规的法医病理学检查难以确定死因，给法医病理学诊断带来困难，通常引起纠纷，此类案件的发生率在国外约6%，国内由北京阜外医院牵头本单位参加所报道的697例SCD的统计分析中，该类案例占10%，是目前SCD病因诊断研究的重点。过去几十年，由于分子遗传学及分子生物学技术的发展，人们对不明原因的SCD有了新的认识。许多研究表明，该类疾病的发生