帕金森病parkin基因的突变分析

目的 探讨中国人帕金森病（PD）中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33例散发性PD和6例家族性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 33例散发性PD患者中发现2例有第7外显子缺失,1例有第5、7外显子联合缺失,其起病年龄分别为46、48、50岁,6例家族性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;所有缺失突变患者均有震颤,僵直和运动迟缓,但无异动症。第3、4、6外显子未发现缺失突变,结论 中国散发性和家族性PD患者中存在parkin基因第5、7外显子缺失突变改变。

Analysis of the parkin gene deletion mutations in Chinese patients with Parkinson's disease

OBJECTIVE: Clarify parkin gene deletion mutations at exons 3 to 7 in Chinese patients with Parkinson's disease (PD) and analyze them together with the clinical features of PD. METHODS: DNA was extracted from peripheral blood of 33 sporadic PD patients and 6 familial PD patients. Deletion mutations of parkin gene were identified by PCR amplification and agarose gel electrophoresis. The clinical data were analyzed together with the above information. RESULTS: Of the 33 sporadic PD patients, 1 had exons 5 and 7 deletion, 2 had exon 7 deletion. The age of onset was 46, 48, 50 respectively. In the 6 familial PD patients, 1 had exon 5 deletion. The inheritance pattern in this patient was autosomal recessive and onset of the patient was 60. All of the patients who had parkin gene deletion mutations had tremor, rigidity and bradykinesia, but athetosis was not found. In addition, deletion mutations of parkin gene at exons 3, 4 and 6, were not found. CONCLUSION: There are deletion mutations of parkin gene at exons 5 and 7 in Chinese PD patients.