广西地区一个早发性帕金森病家族Parkin基因的研究  

Studies on Parkin Gene of a Family with Early-onset Parkinson’s Disease in Guangxi

作　　者：罗曙光[1] 易祖芳[2] 王进[1] 程道宾[1] 林伟雄[3] 杨华丹[1] 卢翠玲[1] 

机构地区：[1]广西医科大学第一附属医院神经内科 [2]广西壮族自治区人民医院神经内科 [3]广西医科大学实验中心,530021

出　　处：《中国临床神经科学》2009年第4期357-360,共4页Chinese Journal of Clinical Neurosciences

基　　金：广西自然科学基金资助项目(桂科自0339046)

摘　　要：目的:研究Parkin基因1～12号外显子缺失突变、点突变与一个早发性帕金森病(EOPD)家族的关系。方法:采用聚合酶链反应(PCR)扩增2例临床确诊为EOPD患者及其亲属的Parkin基因1～12号外显子;用琼脂糖凝胶电泳和单链构象多态性分析检测Parkin基因1～12号外显子缺失突变和点突变;将1例患者Parkin基因的1～12号外显子进行测序,对发现有异常的外显子,用斑点杂交、放射显影定性方法检测其亲属相应的外显子。结果:所有研究对象均未检测到Parkin基因1～12号外显子缺失突变。结论:在2例患者及2名无临床症状亲属新发现7号外显子同义杂合点突变C869T,但此突变没有引起蛋白质序列改变(Arg256Arg)。Aim： To study the Parkin gene deletion mutations and point mutations of exons 1 to 12 of Parkin gene in a family with early-onset Parkinson＇s disease（EOPD） in Guangxi. To analyze the association between these changes and the etiology in the disease. Methods： The Parkin gene＇ s exons of 2 early-onset Parkinson＇ s disease patients and 2 of their family numbers were amplified by polymerase chain reaction（PCR）. The deletion mutations and point mutations of the exons were identified by agarose gel electrophoresis and single strand conformation polymorphism （SSCP）. The Parkin gene＇ s exons of a patient were sequenced. If an abnormal sequencing result was found, the exon of other members would be detected by dot blotting, radiant developing. Results： No deletion mutations of the exons in all the patients and their family numbers were found. However, a new silent heterozygosis point mutation C869T in exon 7 was identified in 2 patients and one family without symptoms. But this mutation did not make a change in the sequence of the protein. Conclusion： It was suggested that the deletion mutations and the point mutation in Parkin gene might not be a susceptible factor for this family with EOPD.

关 键 词：早发性帕金森病 PARKIN基因 缺失突变 点突变 

分 类 号：R742.5[医药卫生—神经病学与精神病学]