散发性早发帕金森病parkin基因1、2号外显子突变的研究  

Mutation Detection on Exon 1 and 2 of Parkin Gene in Sporadic Early-onset Parkinson's Disease

作　　者：徐严明[1] 刘焯霖[1] 陈彪[1] 陶恩祥[1] 陈国俊[1] 黎锦如[1] 

机构地区：[1]中山医科大学附属第一医院神经科,广东广州510080

出　　处：《中山医科大学学报》2001年第3期209-211,F003,共4页Academic Journal of Sun Yat-sen University of Medical Sciences

基　　金：国家卫生部临床重点学科基金资助项目 ( 970 40 2 2 9);211工程基金资助项目 ( [1999] 98119)

摘　　要：【目的】研究 parkin基因 1、2号外显子突变与散发性早发帕金森病发病的关系。【方法】应用聚合酶链反应(PCR)、琼脂糖凝胶电泳和单链构象多态性 (SSCP)方法检测 5 2例散发性早发帕金森病病人外周血白细胞DNA的 parkin基因 1、2号外显子突变情况 ,并对SSCP有异常泳动外显子进行DNA测序。【结果】发现 1例病人 (1 9% )存在 parkin基因 2号外显子缺失 ,2例病人 (3 8% )分别存在parkin基因 1、2号外显子PCR产物SSCP发生泳动变位 ,测序发现 1号外显子为杂合突变 (T10 3 C) ,2号外显子为纯合突变 (G2 3 7C)。【结论】parkin基因 1。To study the relationship between mutations on exon 1, 2 of parkin gene and sporadic early onset Parkinson's disease. The deletion and single strand mobility shift on exon 1 and 2 of parkin gene in peripheral white blood cell DNA were detected by using PCR, agarose electrophoresis, and SSCP techniques in 52 patients with sporadic early onset (onset age≤50) Parkinson's disease. The exons with mobility shift on SSCP were sequenced. One deletion(1 9%) of exon 2, 2 cases with single strand mobility shift(3 8%)on exon 1 and exon 2 respectively, one heterozygous mutation (T 103 C) on exon 1 and one homozygous mutation (G 237 C) on exon 2 were found by sequencing. [Conclusion] Mutations on exon 1 and 2 of parkin gene are likely to be related to sporadic early onset Parkinson's disease.

关 键 词：帕金森病 多态现象 单链构象 PARKIN基因 基因突变 外显子突变 

分 类 号：R742.5[医药卫生—神经病学与精神病学]