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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)。
OBJECTIVE: To study the relationship between mutations in Parkin gene exon 1-12 and point mutations and a family of early-onset Parkinson’s disease (EOPD). Methods: Two Parkin gene exons 1 to 12 in patients with EOPD and their relatives were amplified by polymerase chain reaction (PCR). The expression of Parkin gene 1 was detected by agarose gel electrophoresis and single strand conformation polymorphism ~ 12 exon deletion mutations and point mutations; Parkin gene 1 to 12 exons were sequenced, found abnormal exons, spot hybridization, radiological imaging qualitative detection of their relatives outside Exotic Results: No deletions of Parkin gene exons 1-12 were detected in all the subjects. CONCLUSIONS: Synchronous point mutation C869T of exon 7 was newly found in 2 patients and 2 relatives without clinical symptoms. However, this mutation did not cause any change of protein sequence (Arg256Arg).