关键词: 帕金森病；基因，PARK2;DNA突变分析；危险因素；临床方案

Abstract:

Objective   To investigate PARK2 gene mutations in 42 patients with sporadic early-onset Parkinson′s disease(EOPD) and to explore their clinical characteristics.  Methods   A total of 42 sporadic EOPD patients were screened for mutations in PARK2 gene by using SYBR GreenI real-time PCR and DNA direct sequencing methods.  Results   5 patients carried PARK2 gene mutations in the 42 sporadic EOPD， including 1 heterozygous deletions mutation， 1 homozygous  duplication mutation， 1compound heterozygous point mutation and 2 identical  heterozygous small sequence deletion mutations. Two of the mutations (c.850G>C and c.968973delGTGTCC) were reported previously. The c.925G>T was a novel mutation. The patients with PARK2 mutations showed an earlier onset age than those without PARK2 mutations. But they showed no significant difference in the score of UPDRS(Unified Parkinson′s Disease Rating Scale)3.0 and HoehrYahr.  Conclusion   The frequency of mutations in PARK2 gene is 11.9% in sporadic EOPD. Point mutation is the main type of mutations in sporadic EOPD. There are no significant differences in clinical features and disease severiies between patients with or without PARK2 mutations. However, patients who carry PARK2 mutations showa significantly earlier onset age, longer disease duration and slower progression than those without PARK2 mutations.