Primary study on parkin gene deletion mutations in Chinese patients with familiel Parkinson's disease / 临床神经病学杂志
Journal of Clinical Neurology
;
(6)1995.
Article
in Chinese
| WPRIM
| ID: wpr-582661
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Journal of Clinical Neurology
Year:
1995
Type:
Article
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