No mutation of G209A in the alpha-synuclein gene in sporadic Parkinson's disease among Taiwan Chinese
No mutation of G209A in the alpha-synuclein gene in sporadic Parkinson's disease among Taiwan Chinese
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DOI：
10.1159/000008008
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发表时间：
1999-01-01
影响因子：
2.4
通讯作者：
Chang, JG
中科院分区：
文献类型：
--
作者：
Hu, CJ;Sung, SM;Chang, JG
遗传学在帕金森氏病(PD)中的作用，以前存在争议，现在得到了几项研究的支持。一项重大突破是在家族性帕金森病中发现了单基因缺陷。在常见的帕金森病病例中，已发现α-突触核蛋白基因第四外显子第209位碱基对由G变为A(G209A)。我们在65例台湾中国散发性帕金森病患者中寻找了这种突变，但没有发现这些患者中有这种突变。我们的结论是，α-突触核蛋白基因G209A突变在中国台湾地区散发性帕金森病中不起作用。
The role of genetics in Parkinson's disease (PD), previously controversial, is now supported by several studies. A major breakthrough has been the discovery of a single gene defect in familial Parkinson's disease. A single base pair change at position 209 from G to A (G209A) in the fourth exon of the alpha-synuclein gene has been identified in cases of familiar PD. We looked for this mutation in 65 cases of sporadic PD in Taiwan Chinese patients but found none of these patients with this mutation. We conclude that mutation of G209A in the alpha-synuclein gene plays no role in sporadic PD among Taiwan Chinese.