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目的探讨42例散发性早发性帕金森病(EOPD)PARK2基因突变情况及突变患者的临床特点。方法采用SYBR GreenI实时荧光定量以及DNA直接测序方法,对42例EOPD患者进行PARK2基因突变分析。结果在42例EOPD患者中共发现5例PARK2基因突变,外显子杂合缺失突变、外显子纯合双重重复突变、复合杂合点突变各1例,另外2例存在相同的杂合小片段缺失突变。c.850G>C和c.968-973delGTGTCC为已经报道的突变,c.925G>T为未报道新突变。PARK2基因突变EOPD患者发病年龄比无PARK2基因突变者小。但是在统一帕金森病评定量表(UPDRS)3.0版第Ⅲ部分关期评分和Hoehr-Yahr关期评分上无差异。结论散发性EOPDPARK2基因突变率为11.9%;点突变是散发性EOPD的主要突变类型;PARK2基因突变组和无突变组的EOPD患者在临床症状上和病情严重程度上无明显差异,但PARK2基因突变组发病年龄小,病程长,病情进展缓慢。
Objective To investigate the clinical features of mutations of PARK2 gene in 42 cases of sporadic premature Parkinson’s disease (EOPD). Methods SYBR GreenI real-time fluorescence quantitative PCR and direct DNA sequencing were used to analyze the mutation of PARK2 gene in 42 patients with EOPD. Results A total of 5 cases of PARK2 gene mutation, exon heterozygous deletion mutation, exon homozygous double duplication mutation and compound heterozygous point mutation were found in 42 cases of EOPD patients, 1 case in each case, and the other 2 cases had the same heterozygous small fragment deletion mutation. c.850G> C and c.968-973delGTGTCC are the reported mutations and c.925G> T are unreported new mutations. PARK2 gene mutations in patients with EOPD age than those without PARK2 mutations. However, there was no difference between the off-period score of the Part III of the Unified Parkinson’s Disease Rating Scale (UPDRS) version 3.0 and the Hoehr-Yahr off-score. Conclusions The mutation rate of sporadic EOPDPARK2 gene is 11.9%. Point mutation is the main type of sporadic EOPD. There is no significant difference in clinical symptoms and severity of EOPD between PARK2 gene mutation group and non-mutation group. However, mutation of PARK2 gene Group age of onset of small, long duration, the disease progressed slowly.