帕金森病与LRRK2基因G2019S突变相关性研究
Study of the association between Parkinson disease and G2019S mutations of LRRK2 gene
目的 筛查中国帕金森病人中是否存在LRRK2基因G2019S错义突变。方法 利用聚合酶链反应和测序的方法对来自5个常染色体显性遗传性帕金森病家系的16例患者和120例散发性帕金森病患者的LRRK2基因的41号外显子进行检测。结果 所有的DNA标本的PCR扩增产物，经测序后比对,均未发现G2019S错义突变。 结论 LRRK2基因G2019S错义突变可能不是中国帕金森病的突变热点。
Objective To search for the G2019S missense mutation of LRRK2 gene in Chinese Parkinson disease (PD) patients. Methods 16 familial PD patients from 5 kindreds and 120 sporadic PD patients were studied with Polymerase chain reaction (PCR) and sequencing. Results No mutation was found. Conclusions G2019S missense mutation of LRRK2 gene is not mutational hot spot in Chinese PD patients.
李静、何丹、沈璐、陈涛、江泓、郭纪峰、曹立、张玉虎、唐北沙
神经病学、精神病学基础医学遗传学
帕金森病 LRRK2 聚合酶链反应
Parkinson disease，LRRK2 ，Polymerase chain reaction
李静,何丹,沈璐,陈涛,江泓,郭纪峰,曹立,张玉虎,唐北沙.帕金森病与LRRK2基因G2019S突变相关性研究[EB/OL].(2005-12-07)[2025-06-16].http://www.paper.edu.cn/releasepaper/content/200512-139.点此复制
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