ryr2基因g1885e g1886s位点多态性与不明原因心脏性猝死的相关性探索-study on the relationship between ryr 2 gene g 1885 e g 1886 s polymorphism and unexplained sudden cardiac death.docxVIP

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ryr2基因g1885e g1886s位点多态性与不明原因心脏性猝死的相关性探索-study on the relationship between ryr 2 gene g 1885 e g 1886 s polymorphism and unexplained sudden cardiac death.docx

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ryr2基因g1885e g1886s位点多态性与不明原因心脏性猝死的相关性探索-study on the relationship between ryr 2 gene g 1885 e g 1886 s polymorphism and unexplained sudden cardiac death

目录主要缩略语中英文对照·····················································01一、论文：RYR2基因G1885E、G1886S位点多态性与不明原因心脏性猝死的相关性探索中文摘要·······································································02Abstract04前言·············································································07材料与方法····································································11实验结果·······································································20讨论·············································································26结论·············································································32参考文献·······································································33二、综述：RYR2基因介导的心脏性猝死综述·············································································37参考文献·······································································53附录1：硕士在读期间参与课题研究及发表论文·····················63三、致谢致谢·············································································64主要缩略语英文对照简称英文全称中文全称SCDSUDARVCCPVTRyR2SNPSRECCLCCNCXFKBP12.6HFDADSuddencardiacdeathSuddenunexplainedcardiacdeathArrhythmogenicRightVentricularCardiomyopathyCatecholaminergicpolymorphicventriculartachycardiaCardiacryanodinereceptor2SingleNucleotidePolymorphismSarcoplasmicreticulumExcitation-contractioncouplingL-typecalciumchannelNa+/Ca2+exchangeFK506bindingprotein/Castabin2HeartfailureDelayedafterdepolarizations心脏性猝死不明原因心脏性猝死致心律失常性右心室心肌病儿茶酚胺性多态性室速心脏雷诺定受体-2单核苷酸多态性肌浆网兴奋-收缩耦联L-型钙通道Na+/Ca2+交换FK506结合蛋白心力衰竭延迟后除极RYR2基因G1885E,G1886S位点多态性与不明原因心脏性猝死的相关性探索华中科技大学同济医学院法医学系硕士研究生王云云导师朱少华副教授摘要【研究背景】钙离子在维持心脏正常节律和兴奋-收缩耦联中发挥重要作用。RYR2基因编码心肌细胞肌浆网Ca2+释放通道-雷诺定受体2(Ryanodinereceptor2，RyR2)，该基因的突变引起RyR2通道舒张期肌浆网Ca2+泄露增加，引发心肌细胞Ca2+稳态失衡，从而导致致死性心律失常。大量研究表明致心律失常性右心室心肌病（Arrhythmogenicrightventricularcardiomyopathy，ARVC）和儿茶酚胺性多形性室性心动过速（Catecholaminergicpolymorphicventriculartachycardia，CPVT）与RYR2基因变异存在相关性，而CPVT与ARVC患者平常可无明显临床症状和体征，约50%患者以晕厥和猝死为首发症状，易引起纠纷而需进行法医病理学尸体解剖检查，但多数案例心脏未检见明显形态学异常，此类案例常被称为不明原因心脏性猝死（Suddenunexplainedcaidiacdeath，SUD），是困扰