摘要
目的:观察帕金森病遗传易感基因Parkin基因4,6,7号外显子突变的多态性,探讨Parkin基因突变在家族和散发的原发性帕金森病发病过程中的作用。方法:实验于2003-07/2004-08在解放军第四军医大学唐都医院功能性脑疾病研究所完成。通过聚合酶链式反应、基因测序技术及整合荧光偏振技术和模板指导荧光末端掺入技术,对36例家族性及214例散发性原发性帕金森病患者进行Parkin基因4,6及7号外显子突变检测,观察有无Parkin基因突变及其突变类型和不同的突变率,并以250名正常健康人作为阴性对照,参与者均知情同意。结果:按意向处理分析,250例原发性帕金森病患者和250例健康对照者均进入结果分析。①在36例家族性帕金森病患者中共发现Parkin基因exon4号缺失突变8例、601位G→A点突变型2例;exon6缺失5例、768位T→C点突变型1例;exon7缺失3例、未发现exon7点突变型。②214例散发性帕金森病患者中有exon4号缺失突变2例、601位G→A点突变型40例;exon6缺失2例、768位T→C点突变型22例、820位C→G点突变20例;exon7缺失1例、924位C→T点突变型10例、952位G→C点突变型12例。③250名阴性对照组中无缺失突变,发现exon4601位G→A点突变型10例,exon6768位T→C点突变型5例、820位C→G点突变型3例,exon7924位C→T点突变型3例。
AIM:To observe the polymorphism of Parkin gene mutation in exons 4,6 and 7 in Parkinson disease,and study the important role of Parkin gene in the pathogenesis of familial or sporadic primary Parkinson disease. METHODS:The experiment was finished in the Institute of Functional Disease of Brain,Tangdu Hospital of Fourth Military Medical University of Chinese PLA from July 2003 to August 2004.The experiment group included 36 familial Parkinson disease patients and 214 sporadic Parkinson disease patients,and the control group consisted of 250 healthy subjects.The target DNA fragment of exons 4,6 and 7 of Parkin gene was detected by using polymerase chain reaction,gene sequencing technique,Fluorescence Polarization Immunoassay and Fluorescence marker to observe the mutation genotype,mutation type and mutation rate.Consent was obtained from all the participants.RESULTS:According to intention to treat,all participants were involved in the result analysis.① Of the 36 cases of familial Parkinson disease,the loss of exon 4 DNA fragment was found in 8 cases and the G→ A point gene mutation at 601 site was found in 2 cases ;the loss of exon 6 DNA fragment was found in 5 cases and the T→ C point gene mutation at 768 site was found in 1 case ;the loss of exon 7 DNA fragment was found in 3 cases and no point gene mutation was found in exon 7.② Of the 214 cases of sporadic Parkinson disease,the loss of exon 4 DNA fragment was found in only 2 cases but the G→ A point gene mutation at 601 site was found in 40 cases ;the loss of exon 6 DNA fragment was found in 2 cases while the T→ C point gene mutation at 768 site was found in 22 case and the C→ G point gene mutationin at 820 site was found in 20 case ;the exon loss of 7 DNA fragment was found in only 1 case while the C→ T point gene mutation at 924 site was found in 10 cases and the G→ C point gene mutation at 952 site was found in 12 cases .③ However,in the control group,no loss of target DNA fragment was found ,while the G→ A point mutation at 601 site was found in 10 cases of exon 4 ;the T→ C point mutation at 768 site was found in 5 cases of exon 6 and the C→ G point gene mutation at 820 site was found in 3 cases ;the C→ T point gene mutation at 924 site was found in 3 cases of exon 7 and the G→ C point gene mutation at 952 site was found in 8 cases.CONCLUSION:Parkin gene mutation shows different mutation genotypes in familial or sporadic patients with primary Parkinson disease,which indicates different genetic characters and pathogenesis.
出处
《中国临床康复》
CSCD
北大核心
2005年第17期13-15,共3页
Chinese Journal of Clinical Rehabilitation
