Objective: To search parkin gene deletion mutations at exons 1 to 6 in Chinese patients with praecox Parkinson's disease (PPD) and analyze them together with the clinical features of PPD.
Methods: DNA was extracted from peripheral blood of PPD 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: Out of 21 patients, 2 had exon 1 deletion, 2 exon 4 deletion, and 1 exon 6 deletion. The mean age of the patients with deletion mutation was 45.7+/-1.8 years. All of the patients who had parkin gene deletion mutation had tremor, rigidity and bradykinesia, but athetosis and family history of PD were not found. In additon, the deletion mutations of parkin gene at exons 2, 3, 5, were not found.
Conclusion: There are deletion mutations of parkin gene at exons 1,4,6 in PPD of Chinese, and such deletions generally happen on middle-aged patients.