Standing on the Shoulders of Giants: JAP Pare and the Birth of Cardiovascular Genetics
Standing on the Shoulders of Giants: JAP Pare and the Birth of Cardiovascular Genetics
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DOI：
10.1016/j.cjca.2015.05.026
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发表时间：
2015-11-01
影响因子：
6.2
通讯作者：
McKenna, William J.
中科院分区：
文献类型：
--
作者：
Sen-Chowdhry, Srijita;McKenna, William J.
突然死亡和中风频繁地折磨着一个来自魁北克农村的家庭，以至于被当地社区称为科蒂库克诅咒。20世纪50年代末，在蒙特利尔，由J.A.P. Pare领导的一组医生调查了这个家族的遗传性心血管疾病。他们的努力促成了对家族性肥厚性心肌病广泛而经典的描述。四分之一个世纪后，同一家族成为连锁分析和直接测序的对象，最终在编码-肌球蛋白重链的基因中分离出突变。MYH7是第一个与心血管疾病有关的基因，它为鉴定其他遗传性疾病的突变、机制研究和临床应用（如预测性检测）铺平了道路。目前心血管基因组学的时代可以说是在Pare博士和他的同事50多年前的临床观察中开始的。
Sudden death and stroke afflicted a family from rural Quebec with such frequency as to be called the Coaticook curse by the local community. In Montreal in the late 1950s, a team of physicians led by J.A.P. Pare investigated this family for inherited cardiovascular disease. Their efforts resulted in an extensive and now classic description of familial hypertrophic cardiomyopathy. A quarter of a century later, the same family was the subject of linkage analysis and direct sequencing, culminating in the isolation of a mutation in the gene encoding the beta myosin heavy chain. MYH7 was the first gene implicated in a cardiovascular disease, which paved the way for identification of mutations in other heritable disorders, mechanistic studies, and clinical applications, such as predictive testing. The present era of cardiovascular genomics arguably had its inception in the clinical observations of Dr Pare and his colleagues more than 50 years ago.