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

【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.