Sporadic Parkinson's Disease, Mitochondrial Dna Part Of The Point Mutation Study

Objective:To investigate the polimophism of mitochondrial DNA region V in Zhuang and Miao populations from Guangxi province of China and Jing population from Vietam.Methods:PCR-PAGE was used in the research.Results:Only standard pattern and short pattern were found in the sanmles studied.The frequencyies of the 9-bp deletions in Zhuang,Miao,and Jing populations were 20.83%,33.01% and 33.31%respectively.The frequencyies of the 9-bp deletions in Zhuang populations from Nanning,Liuzhou,Baise and Hechi were 22.22%,14.58%, 12.50%and 22.45%respectively.The significant difference of frequencies of the 9-bp deletions were found between Zhuang and Miao populations,as well as between Zhuang population and Jing population.The frequencies of the 9-bp deletions in Zhuang and Miao populations from Guangxi are diferent from those in Zhuang and Miao population from other areas.Conclusion:The deletion occurs at varying frequencies in different populations.Our data suggest close genetic relationship between the populations from south of China and Jing population from Vietam based on the frequencies of 9-bp deletions. Objective:To test the association between mitochondrial DNA(mtDNA)point mutations and parkinson's disease(PD),and to investigate the characteristics of mtDNA mutations Chinese patients with PD.Methods:Screening mtDNA G1719A,G4580A,C7028T,G8251A,G9055A, A10398G,A12308G,G13366A,C13708T,G16391A point mutations in 65 patients with PD and 50 of the controls by Polymerase Chain Reaction(PCR), dot blotting,radiant developing.Results:Out of the 65 patients with PD.5 had G1719A mutation,7.7%0 2 had G9055A,3.1%.4 had A13708G,6.2%,but no anyone with G1719A,G9055A, C13708T was found in the controls.The ratios ofG1719A,G9055A,C13708T point mutations in the patients with PD were higher than those of the controls. No significant differences were found in the 3 point mutations.Conclusions:our results suggest there is association between mtDNA missense mutations and PD:the G1719A,G9055A,C13708T missense mutation probable may be one of the factors leading to PD.