Abstract

We analyzed the frequency of four mitochondrial DNA haplogroups in 424 individuals from 21 Colombian Amerindian tribes. Our results showed a high degree of mtDNA diversity and genetic heterogeneity. Frequencies of mtDNA haplogroups A and C were high in the majority of populations studied. The distribution of these four mtDNA haplogroups from Amerindian populations was different in the northern region of the country compared to those in the south. Haplogroup A was more frequently found among Amerindian tribes in northern Colombia, while haplogroup D was more frequent among tribes in the south. Haplogroups A, C and D have clinal tendencies in Colombia and South America in general. Populations belonging to the Chibcha linguistic family of Colombia and other countries nearby showed a strong genetic differentiation from the other populations tested, thus corroborating previous findings. Genetically, the Ingano, Paez and Guambiano populations are more closely related to other groups of south eastern Colombia, as also inferred from other genetic markers and from archeological data. Strong evidence for a correspondence between geographical and linguistic classification was found, and this is consistent with evidence that gene flow and the exchange of customs and knowledge and language elements between groups is facilitated by close proximity.

Highlights

  • Studies about genetic variation among human populations are of great value for understanding genetic structure, migration routes and possible genetic relationships among different continental populations, and mitochondrial DNA analysis has frequently put to such use in American populations (Schurr et al, 1990; Torroni et al, 1992, 1993a,b, 1994; Horai et al, 1993; Bailliet et al, 1994; Merriwether et al, 1994; Santos et al, 1994a,b; Bianchi et al, 1995; Lorenz and Smith, 1996; Merriwether and Ferrell, 1996; Bonatto and Salzano, 1997; Bisso-Machado et al, 2012)

  • Mitochondrial DNA haplogroup frequencies from 424 individuals belonging to 21 Amerindian tribes of Colombia are shown in Table 1 and Figure 1

  • This study provides additional information on mitochondrial DNA (mtDNA) haplogroup distribution in several Colombian Amerindian populations to previous studies (Keyeux et al, 2002)

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Summary

Introduction

Studies about genetic variation among human populations are of great value for understanding genetic structure, migration routes and possible genetic relationships among different continental populations, and mitochondrial DNA (mtDNA) analysis has frequently put to such use in American populations (Schurr et al, 1990; Torroni et al, 1992, 1993a,b, 1994; Horai et al, 1993; Bailliet et al, 1994; Merriwether et al, 1994; Santos et al, 1994a,b; Bianchi et al, 1995; Lorenz and Smith, 1996; Merriwether and Ferrell, 1996; Bonatto and Salzano, 1997; Bisso-Machado et al, 2012). Previous studies based on mtDNA analysis in Native American populations revealed the presence of four distinct haplogroups called A, B, C and D. Haplogroup D is characterized by the loss of an AluI restriction site at position 5176 and a gain of a HincII site at 13259 bp We analyzed 424 individuals from 21 Amerindian populations to determine genetic structure and relationships among them based on geographical and historical information, as well as linguistic and genetic relationships with other tribes of the Americas

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