Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease
Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease
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DOI：
10.1002/mds.20814
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发表时间：
2006-06-01
影响因子：
8.6
通讯作者：
Wu, Yih-Ru
中科院分区：
文献类型：
--
作者：
Fung, Hon-Chung;Chen, Chiung-Mei;Wu, Yih-Ru
富亮氨酸重复激酶2 （LRRK2）基因突变可导致常染色体显性和散发性帕金森病（PD）。我们在这里报告了一个常见的杂合突变2877510G > a的频率，该突变在特发性台湾PD的密码子2019上产生甘氨酸到丝氨酸的氨基酸替换。G2019S突变在我们的人群中极为罕见，这表明这种突变的发生是由一个共同的欧洲创始人造成的。(c) 2006年运动障碍协会。
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been shown to cause autosomal dominant and sporadic Parkinson's disease (PD). We report here the frequency of a common heterozygous mutation, 2877510G > A, which produces a glycine-to-serine amino acid substitution at codon 2019 in idiopathic Taiwanese PD. The extreme rarity of the G2019S mutation in our population suggests the occurrence of this mutation resulted from a common European founder. (c) 2006 Movement Disorder Society.