Diversity and heterogeneity in mitochondrial DNA of North American populations

Variation in the mitochondrial DNA (mtDNA) control region as detected by se quence-specific oligonucleotide (SSO) probes is described for 2282 individu als from African-American, European-American, and Hispanic subpopulations f rom five broadly defined regions of North America Northeast, Southeast, Cen tral, Northwest, Southwest). Population diversity estimates were uniformly high for all subpopulations and for each major ethnic group. Only the Penns ylvania Hispanic group was remarkable with respect to its mitochondrial DNA types, having both six low frequency population specific types (ranging fr om 1.2-8.6%) and three high frequency shared types (10-20% each). There was no statistically significant subpopulation heterogeneity present within an y of the three major groups at either the subpopulation level or the region al level (p > 0.01). However, statistically significant heterogeneity was m easured when comparing the three major groups, to each other, with the vari ance component attributable to this large division accounting for 18.60% of the total variance (p < 0.001). Overall mtDNA is a satisfactory forensic t yping locus within broadly defined African-American, European-American, and Hispanic groups from North America, based on the high diversity estimates and absence of heterogeneity, as characterized by SSO typing.