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Genetics of stroke: a review of recent advances

机译:中风的遗传学:最近的进展回顾

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Stroke is a multifactorial disease responsible for nearly 10% of deaths each year innindustrialized countries. While some monogenic forms of stroke have been described, the vastnmajority result from the common polygenic form of the disease. Progress in molecular geneticsnhas allowed the identification, through genome-wide linkage analysis, of various candidatengenes, including the genes encoding PDE4D and ALOX5AP. Since then, genetic research hasnbeen extensively performed from single candidate genes to whole-genome scan studies, innparallel with the development of high-throughput technologies in molecular diagnostics.nAdditionally, the safety and efficacy of tissue plasminogen activator, the only approved therapynfor the acute phase of stroke, is modulated by genetic background associated with thenoccurrence of hemorrhagic transformations and with the revascularization of the cerebralnarteries. In the near future, understanding the contribution of stroke genetic factors will leadnto improvements in prevention and treatments for neurovascular diseases.
机译:中风是一种多因素疾病,在工业化国家中,每年导致近10%的死亡。尽管已经描述了中风的一些单基因形式,但绝大多数是由该疾病的常见多基因形式引起的。分子遗传学的进展已允许通过全基因组连锁分析来鉴定各种候选基因,包括编码PDE4D和ALOX5AP的基因。从那时起,就不再进行从单一候选基因到全基因组扫描研究的遗传研究,而与分子诊断中高通量技术的发展并行。此外,组织纤溶酶原激活物的安全性和有效性是唯一被批准用于急性期的疗法。中风的发生由与出血性转化的发生以及脑部血运重建相关的遗传背景调节。在不久的将来,了解中风遗传因素的作用将导致神经血管疾病的预防和治疗得到改善。

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