Study On The Association Between MtDNA Haplogroups And PD, And One MtDNA Mutation In Patients With PD

Objective: To explore the relationship between several common East Asia mtDNA haplogroups and sporadic PD in Chinese, and the function of PD mtDNA mutation T4336C in Chinese.Methods: Extraction of total genomic DNA from venous blood cells of 79 PD patients and 63 healthy controls was performed by hydroxybenzene-chloroform method respectively, the 4 single nucleotide polymorphisms (SNP) which is related to the several common East Asia mtDNA haplogroups and one PD mtDNA mutation T4336C were genotyped by PCR-RFLP method, then interpreted the results by agarose gel electrophoresis. Relative risk of PD with each mtDNA halogroup were measured by rate ratio, and were compared with each other. Experimental results were statistical analyzed by spss16.0Results: Two individuals of haplogroup A, four individuals of haplogroup C ,five individuals of haplogroup D ,two individuals of haplogroup G were found in the PD patients ,and three individuals of haplogroup A ,nine individuals of haplogroup C ,eight individuals of D,only one individuals of haplogroup G were found in the healthy controls. With the most common haplogroup D as reference group, relative risk of PD with haplogroup G is 3.2, haplogroup A 1.07 and haplogroup C 0.71,but there was no significant difference. While there was no individual with mutation T4336C found in PD group and control group.Conclusion: There was no advantage haplogroup among the four haplogroups in our study, while individuals classified as haplogroup C have the lowest relative risk of PD, additional large sample stratified studies of sex and age will be need to confirm the protective effect of the haplogroup. While the mutation T4336C which was reported related to the risk of PD do not play a major role in the risk of PD in Chinese .