title: A great diversity of Amerindian mitochondrial DNA ancestry is present in the Mexican mestizo population.
abstract: There are limited data on mitochondrial DNA (mtDNA) variation in the Mexican mestizo population. To examine the genetic diversity and matrilineal ancestry, the full mtDNA hypervariable regions I and II were sequenced in 270 unrelated mestizos from different regions of Mexico. A total of 202 different haplotypes were identified and the haplotype diversity was 0.9945. Amerindian haplotypes predominated in the sample with a proportion of 93.3%, followed by European (6.0%) and African haplotypes (0.7%). The frequency of the Amerindian haplogroups A2, B2, C1 and D1 was 51.1, 17.8, 18.5 and 5.9%, respectively. The frequency of Amerindian haplogroups was higher in the central region than in Mexico City, whereas it was the contrary for European haplogroups. This difference was accounted principally by the high frequency of B2 haplotypes in the central region. The minimum spanning network, the mismatch distribution and Tajima's D neutrality test suggest a population expansion for each Amerindian haplogroup, which could be initiated more recently for haplogroups A2 and D1. The present knowledge combined with other nuclear genetic markers will be essential in future association studies to correct for genetic substructure in mestizo populations.
authors.affiliation: Facultad de Medicina, UNAM, Mexico City, México.
authors.forename: Mariano
authors.initials: M
authors.lastname: Guardado-Estrada
authors.forename: Eligia
authors.initials: E
authors.lastname: Juarez-Torres
authors.forename: Ingrid
authors.initials: I
authors.lastname: Medina-Martinez
authors.forename: Ana
authors.initials: A
authors.lastname: Wegier
authors.forename: Antonio
authors.initials: A
authors.lastname: Macías
authors.forename: Guillermo
authors.initials: G
authors.lastname: Gomez
authors.forename: Fernando
authors.initials: F
authors.lastname: Cruz-Talonia
authors.forename: Edgar
authors.initials: E
authors.lastname: Roman-Bassaure
authors.forename: Daniel
authors.initials: D
authors.lastname: Piñero
authors.forename: Susana
authors.initials: S
authors.lastname: Kofman-Alfaro
authors.forename: Jaime
authors.initials: J
authors.lastname: Berumen
mesh_terms: D044383:Black People / Q000235:genetics; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000145:classification / Q000235:genetics*; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D005843:Geography; D006239:Haplotypes; D006801:Humans; D007198:Indians, North American / Q000235:genetics*; D008800:Mexico; D010802:Phylogeny; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial