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Standing on the Shoulders of Giants: JAP Pare and the Birth of Cardiovascular Genetics

机译:站在巨人的肩膀上:JAP Pare与心血管遗传学的诞生

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摘要

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.
机译:突然死亡和中风折磨了魁北克农村的一个家庭,其频频被当地社区称为“ Coaticook诅咒”。 1950年代后期,在蒙特利尔,由J.A.P.帕尔调查了这个家庭的遗传性心血管疾病。他们的努力导致了对家族性肥厚型心肌病的广泛而经典的描述。四分之一世纪之后,同一家族成为连锁分析和直接测序的主题,最终分离出编码β肌球蛋白重链的基因中的突变。 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,机制研究以及临床应用(例如预测测试)中的突变铺平了道路。可以说,当今心血管基因组学时代始于50多年前的Pare博士及其同事的临床观察。

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