Study on Parkin gene exon deletion mutations in familial Parkinson¬ðs disease

    GUO Xiaoª²Dong, GAO Guoª²Dong, LI Liª²Hong, WANG Xueª²Lian, ZHANG Hua, LI Weiª²Xin,LIANG Qingª²Chuan,WANG Jiuª²Lei,GUAN Dinª²Guo

    Department of Neurosurgery, Tangdu Hospital£¬Fourth Military Medical University£¬Xi¬ðan 710038£¬China

    ¡¾Abstract¡¿ AIM£º To study the relationshop between the Parkin gene deletion mutations and the etiology of familial Parkinson¬ðs disease (PD) in china, and to explore the role of Parkin gene deletion mutations in the pathogenesis of the familial PD as well as the association with the clinical features, the effects of Posteroventral pallidotomy and Thalamotomy. METHODS: DNA was extracted from peripheral blood cells in 36 familial PD patients and 20 normal controls. Parkin gene exons 4,6,7,10 were identified by polymerase chain reaction(PCR)amplification and agarose gel electrophoresis, to detect the deletion mutations of Parkin gene exon and the rate of deletion mutations and the distribution of deletion mutations, the clinical symptom of PD were analysed together with the above information. RESULTS: Ten cases were found parkin gene exon deletion mutations in 36 familial PD patients, 8 cases had exon 4 deletion mutation, 2 cases had exon 6 and exon 7 respectively. Deletion mutations rate was 27ª±8%(10/36). The deletion mutations of parkin gene at exon 10 was not found. Deletion mutations of parkin gene at exons 4,6,7 and 10 were not found in all of normal controls. The outcome of the operations is good effect on the PD patients with parkin gene deletion mutations. CONCLUSION: Deletion mutations of Parkin gene at exons 4,6,7 contribute partly to the familial PD in China, the results of operations is related to Parkin gene exon deletion mutations. ......