GIGYF2 变异与中国大陆人群的帕金森病无关。
The GIGYF2 variants are not associated with Parkinson's disease in the mainland Chinese population.
机构信息
Department of Neurology and Institute of Neurology, Rui Jin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
出版信息
Parkinsonism Relat Disord. 2010 May;16(4):294-7. doi: 10.1016/j.parkreldis.2009.11.009. Epub 2009 Dec 30.
In order to determine the prevalence of GIGYF2 (Grb10-Interacting GYF Protein 2) variants in the Chinese population and to better understand the association between GIGYF2 and Parkinson's disease (PD), we conducted the genetic screening of GIGYF2 in the Chinese population. Twelve exonic variants were identified in 52 familial PD probands and 56 healthy controls. Non-synonymous point variants (Thr25Ala, Asn457Th and Pro460Th) were analyzed in 510 PD patients and 481 healthy controls of Chinese Han ethnicity. The insertion and deletion variants in Exon 25 (Ins Q 1212, Ins QQ 1217, Del Q 1210, Del Q 1216 and Del PPQ1217_1219) are not related to the onset of familial PD. Our data indicate the GIGYF2 variants are not associated with PD in the mainland Chinese Population.
为了确定 GIGYF2（Grb10-相互作用的 GYF 蛋白 2）变异在中国人群中的流行情况，并更好地了解 GIGYF2 与帕金森病（PD）之间的关联，我们对中国人群进行了 GIGYF2 的遗传筛查。在 52 名家族性 PD 先证者和 56 名健康对照者中鉴定出 12 个外显子变异。对 510 名汉族 PD 患者和 481 名健康对照者进行了非同义点变异（Thr25Ala、Asn457Th 和 Pro460Th）分析。外显子 25 中的插入和缺失变异（Ins Q 1212、Ins QQ 1217、Del Q 1210、Del Q 1216 和 Del PPQ1217_1219）与家族性 PD 的发病无关。我们的数据表明，GIGYF2 变异与中国内地人群的 PD 无关。
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