An approach to the diagnosis of sudden cardiac death : Investigation of a detection method for mutations in genes associated with inherited lethal cardiac arrhythmias

心源性猝死的诊断方法：遗传性致死性心律失常相关基因突变检测方法的研究

• 批准号: 22790605
• 负责人: MATSUSUE Aya
• 金额: $ 2.58万
• 依托单位: Fukuoka University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Young Scientists (B)
• 财政年份: 2010
• 资助国家: 日本
• 起止时间: 2010 至 2011
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-22790605/
• 关键词: 法医学; 心臓突然死; 遺伝性致死性不整脈; 遺伝子変異

In forensic autopsy cases suspected of sudden cardiac death, where autopsy findings and pathological examination revealed no signs of fatal disease, we searched for mutations in genes associated with inherited lethal cardiac arrhythmias. One mutation was found and it was suggested that this mutation was associated with sudden cardiac death. In forensic autopsy cases suspected of arrhythmogenic right ventricular cardiomyopathy(ARVC), we searched for mutations in genes associated with ARVC and some mutations were found. Genetic analysis is scientifically helpful in the diagnosis of sudden cardiac death in forensic autopsy cases.

在怀疑心脏性猝死的法医尸检病例中，尸检结果和病理学检查均未发现致命疾病的迹象，我们寻找与遗传性致死性心律失常相关的基因突变。发现了一个突变，并表明该突变与心源性猝死有关。在法医学尸检中，对疑似致心脏病性右心室心肌病（ARVC）的病例进行了基因突变检测，发现了一些与ARVC相关的基因突变，基因分析有助于法医学尸检中心脏性猝死的诊断。

项目成果

臓突然死剖検例におけるSCN5A遺伝子の変異探索

内脏性猝死尸检病例中寻找SCN5A基因突变

• 发表时间: 2011
• 作者: Ro A;Kageyama N;Takatsu A;Fukunaga T;松末綾
• 通讯作者: 松末綾

An autopsy case of sudden unexpected nocturnal death syndrome with R1193Q polymorphism in the SCN5A gene

• DOI: 10.1016/j.legalmed.2012.04.009
• 发表时间: 2012-11-01
• 期刊: LEGAL MEDICINE
• 影响因子: 1.5
• 作者: Matsusue, Aya;Kashiwagi, Masayuki;Kubo, Shin-ichi
• 通讯作者: Kubo, Shin-ichi

心臓突然死剖検例におけるSCN5A遺伝子の変異探索

寻找心源性猝死尸检病例中 SCN5A 基因的突变

• 发表时间: 2011
• 作者: Sato T;Nishio H;Suzuki K;松末綾
• 通讯作者: 松末綾