早发性帕金森病患者DJ-1基因的突变筛查

Mutations screening of DJ-1 in early-onset Parkinsion′s disease

目的分析四川地区早发性帕金森病(PD)患者及常染色体隐性遗传早发性帕金森病(AREP)家系患者中DJ-1基因外显子的突变情况。方法采用聚合酶链反应、变性高效液相色谱(DHPLC)及DNA测序等技术,对四川地区汉族人群中AREP及家族性PD患者DJ-1基因进行突变筛查。结果对63例早发散发性PD及5个来源于2个AREP家系的患者进行了DJ-1基因2～7外显子的扩增及电泳检测,未发现大片段的纯合性缺失,进一步进行的2～7外显子DHPLC筛查也未发现杂合峰,这说明不存在点突变和小的缺失/插入突变。结论 DJ-1基因的突变可能不是四川地区早发型PD患者发病的危险因素。

Objective The aims of the study were to determine whether there were small basic radical deletions or point mutations of the DJ-1 in patients with early-onset age and in family PD from Sichuan province.Materials and method DJ-1 mutations were detected by using Polymerase chain reaction(PCR) and denaturing high performance liquid chromatography(dHPLC) in early-onset PD and family Parkinsonism.Results We have successly amplificated the exon2-7 of DJ-1 gene in 63 sporadic PD with onset age before 50 and 5 subjects from 2 AREP families.No large fragment homozygous deletions were found.In second stage,we screened the exon2-7 for small deletion/insertion mutations and point mutations using dHPLC.We did not find the heteroduplex peak which suggests no mutations presence in the present study.Conclusion Our results suggest that the DJ-1 gene might not be a genetic risk factor for early-onset patients in Sichuan Han population.