Rapid Screening of ATP13A2 Variant with High-Resolution Melting Analysis
Rapid Screening of ATP13A2 Variant with High-Resolution Melting Analysis
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DOI：
10.1002/mds.23106
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发表时间：
2010-10-30
影响因子：
8.6
通讯作者：
Hattori, Nobutaka
中科院分区：
文献类型：
--
作者：
Funayama, Manabu;Tomiyama, Hiroyuki;Hattori, Nobutaka
帕金森病（PD）的发病机制涉及多种遗传和环境因素。最近，一种负责PARK9的ATP 13A2（p.A746T）的新变体被报道为中国汉族人群中PD的危险因素。为了研究这种变异在日本PD患者中的作用，我们通过高分辨率熔解曲线分析检查了917例日本PD患者（871例索引病例）和190例对照。我们在一名散发性PD患者和一名对照受试者中检测到杂合p.A746T变体。这些结果表明，ATP13A2 p.A746T变异体不太可能作为PD的常见风险因素或致病突变发挥作用，至少在日本人中是如此。我们对日本人的数据不同于最近报道的汉族人。还需要进一步的研究来证实ATP13A2变异体在亚洲人或其他人群中的作用。(C)2010年运动障碍协会
Several genetic and environmental factors are involved in the pathogenesis of Parkinson's disease (PD). Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han-Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high-resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han-Chinese. Further studies are needed to confirm conclusions on roles of ATP13A2 variant in Asians or other populations. (C) 2010 Movement Disorder Society