基金supported by the Major State Basic Research Development Program of China(973 Program)(2011CB510001)the National Natural Science Foundation of China(81361120404,81130021,30900469,81171198,81200870,81000542,81371405,81300980)
基金supported by grants from the Major State Basic Research Development Program of China("973"Program)(2011CB510000)the National Natural Science Foundation of China(81130021,81171198,81200870,81000542)
基金supported by the Major State Basic Research Development Program of China("973" Program)(2011CB510000)the National Natural Science Foundation of China(81200870,81000542,81130021,81361120404,81171198,30900469,81371405)
文摘目的:SLC18A2基因的P387L突变在中国汉族散发性帕金森病人群的关联研究。方法:在931例汉族人群中(包括455例散发性帕金森病患者和476例正常对照者)应用飞行时间质谱分析(matrix-assisted laser desorption/ionizationtime-of-flight mass spectrometry,MALDI-TOF MS)技术测定P387L基因型,并应用Sanger测序的方法对结果进一步验证。同时采用病例-对照研究,探索该突变与散发性帕金森病的关联。结果:在本组931个研究个体中均未发现该突变位点。结论:该突变位点在中国汉族人群中很罕见,可能并非中国汉族散发性帕金森病人群的致病突变位点,该突变位点与帕金森病之间的关联尚需扩大样本及在其他种族人群中进行验证。
