中国家族性帕金森病与α-触核蛋白基因G88C、G209A突变相关性研究

Association study between Chinese familial Parkinson disease and G88C or G209A missense mutations of α-synuclein gene

目的 筛查中国家族性帕金森病患者是否存在α 触核蛋白G88C、G2 0 9A错义突变。方法 利用聚合酶链反应和MvaⅠ、Tsp4 5Ⅰ限制性片段长度多态性 (PCR RFLP)技术对来自 10个家族的 2 0名家族性帕金森病患者和 6 7例散发性帕金森病患者的α 触核蛋白基因 3、4号外显子进行检测。结果 所有血标本的扩增产物经MvaⅠ和Tsp4 5Ⅰ酶切后未见小分子片段。结论 α 触核蛋白G88C、G2 0 9A错义突变不是中国家族性帕金森病的突变热点。

Objective To search for the G88C and G209A missense mutations of α-synuclein gene in Chinese Parkinson disease (PD) kindresds. Methods 20 familial PD patients from 10 kindreds and 67 sporadic PD patients were studied with Polymerase chain reaction (PCR) and MvaⅠ or Tsp45Ⅰ restriction fragment length polymorphic (RFLP) techaniques. Results No mutation was found. Conclusions G88C and G209A missense mutations of α-synuclein gene are rarely seen in Chinese PD kindreds.