共查询到17条相似文献,搜索用时 203 毫秒
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部分心性猝死由于缺乏明确的病理学改变,其鉴定工作一直是法医工作者的一大难题。近年来,与长QT综合征、心房颤动等致死性心律失常疾病相关基因(KCNE基因家族与KCNQ1)等研究逐渐增多。国内外研究发现KCNE和KCNQ1基因编码心肌钾离子通道,其基因异常可引起严重的心律失常,甚至导致心性猝死。因此,死后KCNE和KCNQ1的基因检测对于心性猝死鉴定具有重要意义。本文对KCNE、KCNQ1与心性猝死的相关性研究进展进行综述,希望能为法医学研究和实践提供参考。 相似文献
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不明原因心源性猝死(unexpected sudden cardiac death,USCD)因其不伴有心脏结构的异常,尸体解剖呈阴性改变,一直是法医病理学鉴定的热点难题。USCD可能与部分致死性心律失常有关,该类心律失常多由心脏离子通道蛋白或其相关蛋白发生异常所致。窖蛋白可以通过其脚手架区域与多种心肌离子通道蛋白结合,在维持心肌动作电位的去极化和复极化中起到关键作用。当窖蛋白由于基因突变或蛋白表达异常等因素导致其结构和功能受到影响时,受其调控的心肌离子通道的功能也受到损害,继而引起多种离子通道病的发生,出现心律失常甚至心源性猝死。研究窖蛋白对离子通道功能的影响对于探索恶性心律失常及心源性猝死的发生机制具有重要意义。 相似文献
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NUP155与房颤及原发性心律失常性猝死关系的研究进展 总被引:1,自引:1,他引:0
《中国法医学杂志》2017,(6):599-602
NUP155是组成核孔复合体的一种重要的核孔蛋白,在核孔复合体介导大分子物质出入细胞核过程中发挥重要作用。原发性心律失常是导致猝死的重要原因之一,其主要由于编码心肌细胞膜上离子通道的基因突变所致,因此又被称为"心脏离子通道病"。NUP155是第一个被发现突变后能导致原发性心律失常及心源性猝死的非离子通道基因。本文将对NUP155的结构和生物学功能及其与原发性心律失常性猝死的关系进行阐述。 相似文献
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遗传性心律失常所致猝死的死因鉴定是法医病理学领域亟待解决的难题之一。近年来心律失常易感基因/突变的发现和高通量组学技术的推广,使得利用分子遗传学方法筛查猝死的遗传学病因(即"分子解剖")成为可能。本文通过汇总心律失常分子遗传研究的进展,综述传统遗传分析和近期全基因组关联性研究(GWAS)筛查的结果,为心源性猝死的"分子解剖"研究提供候选基因列表;并进一步比较针对不明原因猝死所开展的回顾性"分子解剖"筛查的结果,探讨新技术在该领域的应用前景。这一综述有助于更好的认识心律失常所致猝死的分子机制,并为借助新一代遗传分析技术进行分子解剖提供有益参考。 相似文献
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目的 为了调查印记基因KCNQl的STR位点在中国汉族人群中的遗传多态性,利用亲源印记等位基因(parentally imprinting allele,PIA)分型法确定孩子的等位基因亲代来源,为亲权鉴定提供新的侯选STR位点.方法 应用Chelex法提取153例佳木斯地区汉族健康无血缘关系个体DNA,用QIAamp Blood l(jt(Qiagen)法提取3个家庭10个个体DNA,PCR扩增,凝胶电泳分型,ABlPRIsMTM3730xL DNA测序仪测序;甲基化敏感性限制性内切酶消化孩子基因组DNA,PCR扩增,确定孩子等位基因的亲代来源.结果 发现在中国佳木斯地区汉族人群中KCNQ1基因的STR有7个等位基因,多态信息含量为0.662,且KCNQI基因的STR位点呈父源印记.结论 印记基因KCNQl的STR位点有很好的多态性.可为亲权鉴定提供新的侯选遗传标记,其亲源特异性甲基化标记有望应用于单亲鉴定中. 相似文献
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心性猝死 ,即平素健康的人由于心性原因而引起的突然而意外的死亡。据统计 ,若把从症状出现到死亡的时间定义为 1h ,那么在猝死人群中将有 80 %~ 90 %属于心性猝死[1] ,其中 60 %~ 70 %均存在不同程度的心肌缺血 ,即为缺血性心性猝死。如此惊人的高发率 ,加之缺血性心性猝死在死因鉴定中的难度和复杂性 ,使得从分子水平寻求其诊断指标日益成为研究热点。本文作者根据国内外相关文献 ,对缺血性心性猝死的分子学研究进展作一综述。1 从心肌肌原纤维结构成分的破坏寻求证据在心肌缺血过程中 ,由于心肌细胞内特异性蛋白成分解构、膜结构的通… 相似文献
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A case of cardiac rhabdomyoma presenting as sudden infant death in a four-and-one-half month-old infant is reported. The child was the product of an essentially uncomplicated pregnancy and enjoyed good health before his unexpected, sudden death. Autopsy examination revealed the presence of multiple cardiac lesions which histologically were diagnosed as rhabdomyomas. Death was attributed to fatal cardiac arrhythmia caused by the tumor. To the authors' knowledge this represents the first reported case in the forensic science literature of death as a result of cardiac rhabdomyoma presenting as sudden infant death syndrome (SIDS). 相似文献
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de la Grandmaison GL 《Forensic science international》2006,156(2-3):138-144
Sudden death is now currently described as natural unexpected death occurring within 1h of new symptoms. Most studies on the subject focused on cardiac causes of death because most of the cases are related to cardiovascular disease, especially coronary artery disease. The incidence of sudden death varies largely as a function of coronary heart disease prevalence and is underestimated. Although cardiac causes are the leading cause of sudden death, the exact incidence of the other causes is not well established because in some countries, many sudden deaths are not autopsied. Many risk factors of sudden cardiac death are identified: age, gender, heredity factors such as malignant mutations, left ventricular hypertrophy and left ventricle function impairment. The role of the police surgeon in the investigation of sudden death is very important. This investigation requires the interrogation of witnesses and of the family members of the deceased. The interrogation of physicians of the rescue team who attempted resuscitation is also useful. Recent symptoms before death and past medical history must be searched. Other sudden deaths in the family must be noted. The distinction between sudden death at rest and during effort is very important because some lethal arrhythmia are triggered by catecholamines during stressful activity. The type of drugs taken by the deceased may indicate a particular disease linked with sudden death. Sudden death in the young always requires systematic forensic autopsy performed by at least one forensic pathologist. According to recent autopsy studies, coronary artery disease is still the major cause of death in people aged more than 35 years. Cardiomyopathies are more frequently encountered in people aged less than 35 years. The most frequent cardiomyopathy revealed by sudden death is now arrhythmogenic right ventricular cardiomyopathy also known simply as right ventricular cardiomyopathy (RVC). The postmortem diagnosis of cardiomyopathies is very important because the family of the deceased will need counseling and the first-degree relatives may undergo a possible screening to prevent other sudden deaths. In each case of sudden death, one important duty of the forensic pathologist is to inform the family of all autopsy results within 1 month after the autopsy. Most of the recent progress in autopsy diagnosis of sudden unexpected death in the adults comes from molecular biology, especially in case of sudden death without significant morphological anomalies. Searching mutations linked with functional cardiac pathology such as long-QT syndrome, Brugada syndrome or idiopathic ventricular fibrillation is now the best way in order to explain such sudden death. Moreover, new syndromes have been described by cardiologists, such as short-QT syndrome and revealed in some cases by a sudden death. Molecular biology is now needed when limits of morphological diagnosis have been reached. 相似文献
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Genetic Variants in KCNE1, KCNQ1, and NOS1AP in Sudden Unexplained Death During Daily Activities in Chinese Han Population 下载免费PDF全文
Jinglu Huang M.D. Xiaoguang Wang M.D. Ph.D. Bo Hao M.D. Yijiu Chen Ph.D. Hong Liu B.D. Li Quan Ph.D. Dawei Tang M.D. Lihui Sheng B.D. Ming Li M.D. Erwen Huang Ph.D. Chao Liu Ph.D. Bin Luo M.D. Ph.D. 《Journal of forensic sciences》2015,60(2):351-356
Fifty‐six sudden unexplained death (SUD) cases were collected from Chinese Han population, which occurred during daily activities and were autopsy negative in comprehensive postmortem autopsy. The coding exons of potassium channel genes KCNE1, KCNQ1, and nitric oxide synthase gene NOS1AP were sequenced. A synonymous mutation, KCNE1 F54F T>C was identified in 2 SUD cases, which was absent in the control subjects. Neither genotype nor allele frequencies of KCNE1 and KCNQ1 exhibited a significant difference between the SUD and control group. In contrast, the allele frequency (p = 2.7 × 10−10) and genotype frequency (p = 5.9 × 10−7) of rs3751284, and the genotype frequency (p = 2.9 × 10−2) of rs348624 in NOS1AP of SUD were significantly different from that of controls (p < 0.05). Our study suggested that rs3751284 and rs348624 might be susceptibility loci for SUD during daily activities. Larger sample sizes and further molecular studies are needed to confirm or exclude an effect of the NOS1AP SNPs on SUD risk. 相似文献
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急性心肌缺血的发生是心源性猝死的最常见原因,而如何认定早期急性心肌缺血是法医学研究的热点,同时也是临床预防心肌梗死发生的重要环节。本文通过对缺血修饰白蛋白(ischemia modified albumin,IMA)和心型脂肪酸结合蛋白(heart-type fatty acid binding protein,H-FABP)的结构、功能、临床应用价值及法医学中的应用前景进行综述,旨在分析二者是否可作为早期心肌缺血的生化检测指标用于心源性猝死的诊断,并为今后选择心源性猝死的科研方向提供借鉴。 相似文献
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A clinicopathological synthesis is presented of the relationship of ischemic heart disease to sudden cardiac death. The immediate pathophysiological process responsible for sudden cardiac death is a lethal arrhythmia, usually ventricular fibrillation. Although significant coronary atherosclerosis is present in most cases of naturally occurring sudden death, available evidence indicates that several mechanisms can be operative in the pathogenesis of the fatal event. These are (1) acute myocardial infarction in a minority of cases; (2) myocardial ischemia, without infarction, which is initiated either by (a) an exertion-induced increase in myocardial oxygen demand or (b) an acute coronary event often involving plaque degeneration and platelet aggregation; and (3) a primary arrhythmia, usually resulting from altered electrical conduction in the setting of a previous myocardial infarction. 相似文献