Mitochondrial DNA regions HVI and HVII population data

Data from 1393 unrelated individuals have been compiled from eight populati on groups: African Americans, Africans (Sierra Leone), U.S. Caucasians, Aus trians, French, Hispanics, Japanese, and Asian Americans. The majority of t he mtDNA sequences were observed only once within each population group (i. e., ranging from a low of 60.3% (35/58) of the Asian American sequences to a high of 85.3% (93/109) of the French sequences). Genetic diversity ranged from 0.990 in the African sample to 0.998 in African Americans. Random mat ch probability ranged from 2.50% in the Asian American sample to 0.52% in U .S. Caucasians. The average number of nucleotide differences between indivi duals in a database is greatest for the African American and African sample s (14.1 and 13.1, respectively), and the least variable are the Caucasians (ranging from 7.2 to 8.4). Substitutions are the predominate polymorphism, and at least 92% of the substitutions are transitions. The most prevalent t ransversions are As substituted for Cs and Cs substituted for As. For most population groups these transversions occurred predominately in the HVI reg ion; however, the African, African American, and Hispanic samples also demo nstrated a large portion of their C to A and A to C transversions in the HV II region (at sites 186 and/or 189). Most insertions occur in the HVII regi on at sites 309.1 and 315.1, within a stretch of C's. Insertions of an addi tional C are common in all population groups. The sequence data were conver ted to SSO mtDNA types and compared with population data on Caucasians, Afr icans, Asians, Japanese, and Mexicans described by Stoneking et al. [M, Sto neking, D. Hedgecock, R.G. Higuchi, L. Vigilant, H.A. Erlich, Population va riation of human mtDNA control region sequences detected by enzymatic ampli fication and sequence-specific oligonucleotide probes, Am. J. Hum. Genet. 4 8 (1991) 370-382] using an RXC contingency table test. Differences between major population groups (i.e., between African, Caucasian, and Asian) are q uite evident, and similar ethnic population groups carried similar SSO poly morphism frequencies. There were only a few SSO types that showed significa nt differences between subpopulation groups. The SSO data alone can not be used to describe the population genetics with complete sequence data. Howev er, the results of the SSO comparisons are similar to other analyses, and d ifferences in sequence data in regions HVI and HVII are greater between maj or population groups than between subgroups. (C) 1999 Elsevier Science Irel and Ltd. All rights reserved.