Challenges to Analysis of Ancestral Inference Using Mitochondrial DNA Hypervariable Region 1 SNP Typing
J. Gaillard, R. Reid

Current analyses of mtDNA with respect to Hispanics/Latinos and persons of African descent are underrepresented and researchers continue to lump them into monomorphic groups. Africans possess the most genetic diversity, thus it is a misnomer to continue delimiting “Africans” or “Blacks” simply as haplogroup L from sub-Saharan Africa, when North Africa (supra-Saharan Africa) is very much a part of the African genetic continuum. It has been established that New World Hispanics/Latinos generally represent persons with a combination of indigenous American and European ancestry or African, indigenous American and European ancestry. The latter is also true for many African Americans. Africans represent all known haplogroups and non-African populations are a subset of genotypes and haplogroups found naturally occurring on the African continent. We tested the mtDNA hypervariable region 1 of an Hispanic/Latino male of African descent and demonstrated via current genomic methods and a review of the recent scientific literature that haplogroup L2a is not restricted to sub-Saharan Africa and when found in supra- Saharan Africa is not present only due to chattel slavery or recent population movements, as is usually reported. We posit that trade across the Sahara in enslaved persons from other parts of Africa may account for some of the North African L2a signatures, however, natural selection and the fact that autochthonous Africans have been present on the African continent longer can account for greater African genetic diversity. Further testing of Hispanics/Latinos and Africans will greatly add to our knowledge of human genetic diversity and how it relates to human evolution, disease resistance, disease susceptibility and drug response.

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