Primary study on parkin gene deletion mutations in Chinese patients with familiel Parkinson's disease
- VernacularTitle:家族性帕金森病患者parkin基因缺失突变的初步研究
- Author:
Sixin LIU
;
Beisha TANG
;
Zhibo ZHANG
- Publication Type:Journal Article
- Keywords:
Familial Parkinson's disease Parkin gene Mutation
- From:
Journal of Clinical Neurology
1995;0(04):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore parkin gene deletion mutations at exons 3 to 7 in Chinese familial patients with Parkinson's disease as well as the association with the clinical features.Methods DNA was extracted from 6 unrelated families of PD patients; the deletion mutations of parkin gene at exons 3 to 7 were identified by PCR amplification, agarose gel electrophoresis. and the clinical data were analyzed together with the above information.Results In the 6 unrelated families of PD patients, 1 case had exon 5 deletion, its hereditary manner was autosomal recessive inheritance,the patient's age at the onset was 60 years old,clinical feature was tremor,rigidity and bradykinesia,but no athetosis.In addition the deletion mutations of parkin gene at exons 3,4,6,7 were not found.Conclusion There are deletion mutations of parkin gene at exons 5 in families PD of Chinese patients.
