家族性帕金森病患者parkin基因缺失突变的初步研究

摘要

AIM:To investigate mutations of exon 3- 7 of parkin gene in Chinese patients with familial Parkinson's disease(PD) and the clinical characteristics of familial PD. METHODS:Peripheral blood samples were collected from six PD patients who were genetically unrelated with others to extract DNA.Mutation analysis of the exon 3- 7 in DNA obtained from peripheral blood was carried out using gradient gel electrophoresis of polymerase chain reaction(PCR) amplification. RESULTS:One patient was found deletion of exon 5 while none was found mutation of exon 3,4,6,and 7.In the patient with exon 5 deletion,PD was inherited as autosomal dominant.Onset of the disease was at 60 years of age.Clinical presentations included tremor, rigidity and hypokinesis,but no chorea. CONCLUSION:Exon 5 deletion has been found in Chinese patients with familial PD.%目的:探讨中国家族性帕金森病( parkinson's disease, PD)患者 parkin基因第 3～ 7外显子是否存在缺失突变,及其与该病临床特点的关系. 方法:采集 6例无血缘相关的家族性 PD患者外周血液,提取 DNA,通过 PCR扩增、琼脂糖凝胶电泳鉴定 parkin基因第 3～ 7外显子缺失突变,并结合临床资料分析. 结果: 6例无血缘相关的家族性 PD患者中,发现 1例有第 5外显子缺失,其遗传模式呈常染色体隐性遗传,起病年龄 60岁,临床表现为震颤、僵直和运动迟缓,但无异动症.第 3, 4, 6, 7外显子未发现缺失突变. 结论:中国家族性 PD患者中存在 parkin基因第 5外显子缺失突变改变.