Genetics of Parkinson's Disease
Genetics of Parkinson's Disease
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DOI：
10.1101/cshperspect.a008888
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发表时间：
2012-01-01
影响因子：
5.4
通讯作者：
Westenberger, Ana
中科院分区：
文献类型：
--
作者：
Klein, Christine;Westenberger, Ana
对帕金森病（PD）的15年遗传学研究已经鉴定出该疾病的几种单基因形式和许多增加发展PD风险的遗传风险因素。单基因型是由显性遗传或隐性遗传基因的单一突变引起的，虽然相对罕见，但已被广泛接受。它们共同占家族性病例的30%和散发病例的3%-5%。本文就帕金森病的分子遗传学研究进展作一综述。简而言之，我们将回顾PD的家族形式，遗传的基本遗传原则（及其在PD中的例外），其次是目前用于识别PD基因和危险因素的方法，以及对基因检测的影响。
Fifteen years of genetic research in Parkinson's disease (PD) have led to the identification of several monogenic forms of the disorder and of numerous genetic risk factors increasing the risk to develop PD. Monogenic forms, caused by a single mutation in a dominantly or recessively inherited gene, arewell-established, albeit relatively rare types of PD. They collectively account for about 30% of the familial and 3%-5% of the sporadic cases. In this article, we will summarize the current knowledge and understanding of the molecular genetics of PD. In brief, we will review familial forms of PD, basic genetic principles of inheritance (and their exceptions in PD), followed by current methods for the identification of PD genes and risk factors, and implications for genetic testing.