家族性帕金森病患者parkin基因缺失突变的初步研究(英文)

Mutations in parkin gene in patients with familial Parkinson's disease

目的:探讨中国家族性帕金森病(parkinson'sdisease,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。

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.