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| 散发性早发帕金森病PARK2基因突变及其临床特征 | |
| 引用本文： | 陈思,刘艺鸣,任楠楠,陈良,李佳珍,宁翔,王京. 散发性早发帕金森病PARK2基因突变及其临床特征[J]. 山东大学学报(医学版), 2012, 50(7): 55-59 |
| 作者姓名： | 陈思 刘艺鸣 任楠楠 陈良 李佳珍 宁翔 王京 |
| 作者单位： | 1.山东大学齐鲁医院神经内科， 济南 250012； 2.山东大学第二医院神经内科， 济南 250033； 3.烟台毓璜顶医院神经内科， 山东 烟台 264000 |
| 基金项目： | 国家自然科学基金(30970990) |
| 摘 要： | 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EOPD PARK2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。 |
| 关 键 词： | 帕金森病；基因，PARK2 DNA突变分析；危险因素；临床方案, |
| 收稿时间： | 2011-12-26 |
Mutation of PARK2 gene in sporadic early-onset Parkinson′s disease and its clinical characteristics |
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| CHEN Si , LIU Yi-ming , REN Nan-nan , CHEN Liang , LI Jia-zhen , NING Xiang , WANG Jing. Mutation of PARK2 gene in sporadic early-onset Parkinson′s disease and its clinical characteristics[J]. Journal of Shandong University:Health Sciences, 2012, 50(7): 55-59 | |
| Authors: | CHEN Si LIU Yi-ming REN Nan-nan CHEN Liang LI Jia-zhen NING Xiang WANG Jing |
| Affiliation: | 1. Department of Neurology, Qilu Hospital of Shandong University, Jinan 250012, China; 2. Department of Neurology, the Second Hospital of Shandong University, Jinan 250033, China; 3. Department of Neurology, Yantai YuHuangDing Hospital, Yantai 264000, Shandong, China |
| 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 show a significantly earlier onset age,longer disease duration and slower progression than those without PARK2 mutations. |
| Keywords: | Parkinson disease Genes,PARK2 DNA mutational analysis Risk factors Clinical protocols |
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