Assessing Ethnicity from Human Mitochondrial DNA Types Determined by Hybridization with Sequence-Specific Oligonucleotides

A logistic regression model was developed to predict ethnic group from mitochondrial DNA (mtDNA) types determined by hybridization with sequence-specific oligonucleotide (SSO) probes of the two hypervariable segments of the mtDNA control region. The model was developed with, and tested against, a previously reported data set of 525 individuals from five ethnic groups (African-American, Southeast Asian, Caucasian, Japanese, and Mexican) involving 23 probes at nine regions within the two hypervariable segments [1]. The model correctly predicted the ethnic group of 65.3% of the overall sample; however, the success rate varied substantially among ethnic groups, with the most success obtained with Caucasians (81% correctly classified). A discriminant analysis yielded similar results. An example is given of using the model to predict the ethnic group of an SSO-type from a forensic case. Such models provide alternatives to traditional skeletal-based methods of predicting ethnicity, especially in cases where skeletal material is absent or incomplete.