早发性和迟发性帕金森病患者parkin基因的检测

Mutations of parkin gene in patients with early-onset and late-onset Parkinson's disease

目的观察早发性帕金森病(EOP)和迟发性帕金森病(LOP)患者中parkin基因的突变情况。方法EOP17例,LOP27例。抽取患者外周血后提取DNA,PCR扩增parkin基因Exon3、4、5、7,琼脂糖凝胶电泳鉴定外显子缺失突变,单链构象多态性检测点突变。结果17例EOP中存在Exon3和Exon5联合缺失1例,27例LOP中存在Exon5缺失1例。单链构象多态性未发现单链泳动异常。4例有家族史的患者中存在parkin基因突变1例25%,40例散发患者中存在parkin突变1例2.5%。结论无论是EOP还是LOP患者中均可检测到parkin基因突变。

Objective To observe the parkin gene mutation in patients with early-onset Parkinson's disease (EOP) and late-onset Parkinson's disease (LOP). Methods DNA was extracted from peripheral blood of 17 patients with EOP and 27 patients with LOP. Deletion mutations at exon3～5 and exon7 in parkin gene were identified by PCR amplification and agarose gel electrophoresis. Single strand conformation polymorphism (SSCP) analysis was conducted on the amplified exons to detect point mutations. Results Out of 17 EOP, one patient had combined deletions at exon3 and exon5 and of 27 LOP, one patient had exon5 deletion. Among 4 patients with family history, one (25%) had parkin gene mutation, while among 40 sporadic patients mutation in parkin gene was detected only in one patient (2.5%). Conclusion Deletion mutations in parkin gene can be detected both in patients with EOP and in patients with LOP.