青壮年猝死综合征与SCN5A基因突变的相关性

Dependence analysis between sudden manhood death syndrome and mutation of SCN5A

近几年来,国内外青壮年不明原因猝死的报道逐年增多,对其死因的界定是法医工作者深感棘手的问题。随着病因学向分子水平的深入,心脏病研究已用分子遗传学技术证实了一类“原发性心电紊乱”导致的心律失常与SCN5A突变引发的钠通道疾病有关,本文回顾了法医学中青壮年猝死综合征(SMDS)的特征及临床医学中几种疾病的基因型和表型,分析其相关性,期望为进一步研究获得一些启示。

In resent years, the accounts about adults＇ sudden death without specific reason have been increased. The definition of cause of death was a hot potato to legal medical experts. With the deep - going of etiology to molecular level, clinical cardiac diseases＇ researches have confirmed that the arrhythmia has been resulted from a kind of ＂idiopathic disorder of cardiac action potential＂ that is related to cardiac sodium channel diseases by SCN5A mutation confirmed by using the techniques of molecular genetics. The paper reviewed the characteristic of SMDS （ Sudden Manhood Death Syndrome） in forensic science and some kinds of diseases＇ genotype and phenotype in clinical medicine, and hoped to acquire some revelation for further related research.