Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan
Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan
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DOI：
10.1016/j.neulet.2005.10.005
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发表时间：
2006-02-06
影响因子：
2.5
通讯作者：
Wu, YR
中科院分区：
文献类型：
--
作者：
Fung, HC;Chen, CM;Wu, YR
PINK 1基因的突变已被证明会导致意大利、西班牙、北美、爱尔兰和亚洲的无胞体隐性帕金森病（PD）和/或早发性散发性PD。然而，关于散发性早发性亚洲PD患者PINK 1突变的数据有限。为了确定PINK 1突变在台湾人群中的患病率，我们对73名早发散发性PD和94名正常对照者进行了PINK 1突变的遗传分析。我们只发现了一个新的单杂合突变R 407 Q突变在外显子6的这个基因在一个病人在54岁发病。总的来说，这些数据表明PINK 1突变在我们的人群中是罕见的。根据我们的研究结果，除非确定了常见的突变热点，否则至少在我们的人群中对这种突变进行常规检测可能不具有成本效益。(c)2005爱思唯尔爱尔兰有限公司保留所有权利。
Mutations in the PINK1 gene have been shown to cause amosomal recessive Parkinson's disease (PD) and/or early onset sporadic PD in Italy, Spain, North America, Ireland, and Asia. However, there are limited data on PINK1 mutations in sporadic early onset Asian PD patients. To determine the prevalence of PINK1 mutation in Taiwanese population, we conducted genetic analysis of PINK1 mutation in 73 early onset sporadic PD and 94 normal control subjects. We only identified a novel single heterozygous mutation R 407Q mutation in exon 6 of this gene in one patient at the age onset of 54. Overall, these data indicate that PINK1 mutations are rare in our population. Based on our results, unless common mutational hotspots are identified, routine testing for this mutation at least in our population may not be cost-effective. (c) 2005 Elsevier Ireland Ltd. All rights reserved.