Methods and Thoughts on Detecting Nucleotide Variations in Human Mitochondrial DNA

Mitochondrial DNA variation analyses have been extensively used in the past two decades,mainly on tracing the origin and migration pattern of human populations,the molecular mechanism of mitochondrial diseases as well as on forensic identification.In this paper,we reviewed many ordinary methods that were used for human mtDNA mutation typing,such as RFLP,SSO,and control region sequencing,with special emphasis on the thoughts on choosing which method to detect mutations.By grouping the recent phylogenetic results about human mtDNA,we listed specific variation sites and corresponding primers for major haplogroups identification in the world.The approach that work with control region data for stable motifs of haplogroups supplemented by additional diagnostic site confirmations by RFLP or sequencing in coding regions should be a main method in the future study about human mtDNA lineages.