Association Study Of Abnormal Hilit T2DM With MtDNA TRNA^Leu And ND1Gene Mutations

Objective: To explore the association between mtDNA tRNA^Leuand ND13243（Aâ†'G）,3264（Aâ†'G）,3290（Tâ†'C）,3316（Gâ†'A）,3394（Tâ†'C）,3593（Tâ†'C） mutations andtype2diabetes with abnormal Hilit in Uighur population from Xinjiang. Methods: TheT2DM patients were divided into abnormal Savda Hilit and non-abnormal Savda Hilit.The technique of polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） was employed to detect the mtDNA in223T2DM patients and186normalcontrol subjects in Uighur population of Xinjiang, followed by direct sequencing toconfirm mutation. Results: There were7cases （3.14%） of3316（Gâ†'A） mutation,2cases（0.90%） of3394（Tâ†'C） mutation in T2DM patients and1case in each controls. Nostatistical differences in the frequencies of mtDNA mutations were found between thesetwo groups. We were not found3243（Aâ†'G）,3264（Aâ†'G）,3290（Tâ†'C） and3593（Tâ†'C）mutation. Significant differences in the3316（Gâ†'A） mutation were found betweenT2DM patients with abnormal Savda Hilit and non-abnormal Savda Hilit （χ2=8.506,P=0.011, P<0.05）. Conclusion: The3316（Gâ†'A） mutations of mtDNA may be linked toT2DM with abnormal Savda Hilit in Uighur population of Xinjiang, but it still needs thesupport of large samples and validation of subsequent research. No correlations werefound in mutations of mtDNA3243（Aâ†'G）,3264（Aâ†'G）,3290（Tâ†'C）,3394（Tâ†'C） and3593（Tâ†'C） of T2DM in Uighur population from Xinjiang, may be it result from theheterogeneity and genetic drift, we need deep study of large samples and sensitivemethods to explain the role of these mutations.