Recent progress in mitochondrial DNA analysis

In this review, we describe the current state of knowledge of mitochondrial genetics of East Asian populations and its application to forensic science. Recent advances in mitochondrial DNA (mtDNA) phylogeny have identified haplogroup-specific single nucleotide polymorphisms (SNPs) and the control region motifs of haplogroups. By analyzing haplogroup-specific SNPs, we can rapidly and accurately connect the mtDNA under study to the relevant haplogroup. Haplogroups are fairly continent- and/or region-specific; therefore, we can infer the ethnic background of that mtDNA. In addition, errors in hypervariable region sequences can be detected by means of haplogroup motif analysis.