Abstract
The characterization of mitochondrial DNA (mtDNA) allows the establishment of genetic structures and phylogenetic relationships in human populations, tracing lineages far back in time. We analysed samples of mtDNA from twenty (20) Native American populations (700 individuals) dispersed throughout Colombian territory. Samples were collected during 1989-1993 in the context of the program Expedición Humana (“Human Expedition”) and stored in the Biological Repository of the Institute of Human Genetics (IGH) at the Pontificia Universidad Javeriana (Bogotá, Colombia). Haplogroups were determined by analysis of RFLPs. Most frequent was haplogroup A, with 338 individuals (48.3%). Haplogroup A is also one of the most frequent haplogroups in Mesoamerica, and we interpret our finding as supporting models that propose Chibchan-speaking groups migrated to northern Colombia from Mesoamerica in prehistoric times. Haplogroup C was found in 199 individuals (28.4%), while less frequent were B and D, with 113 and 41 (16% and 6%) individuals, respectively. The haplogroups of nine (9) individuals (1.3%) could not be determined due to the low quality of the samples of DNA. Although all the sampled populations had genetic structures that fit broadly into the patterns that might be expected for contemporary Central and South American indigenous groups, it was found that haplogroups A and B were more frequent in northern Colombia, while haplogroups C and D were more frequent in southern and south-western Colombia.
Highlights
Studies of the demographic history of human populations were based on archaeological records and historical documents
The present paper reports on a study that analyzed restriction fragment length polymorphisms (RFLPs) to identify the mitochondrial DNA (mtDNA) haplogroups associated with various indigenous Colombian groups in order to establish their genetic structures and consider possible relationships between haplogroup frequencies and linguistic affiliations, to reexamine proposed relationships between the extent of the Chibchan language family and high frequencies of haplogroup A
The results of the present study show that haplogroups A and B are more frequent in northern Colombia, while haplogroups C and D are more frequent in southern Colombia
Summary
Studies of the demographic history of human populations were based on archaeological records and historical documents. During the later 20th century, these approaches were supplemented by studies of classical genetic markers, such as ABO blood groups and HLA loci. It has become possible to use the direct analysis of autosomal DNA, the non-recombining portion of the Y chromosome (NRY DNA), and mitochondrial DNA (mtDNA) to study the genetic structure of human populations in greater detail. MtDNA, inherited through the maternal line, has certain properties that make it a valuable tool for analysing variability among human populations. Analysis of mtDNA haplogroups makes it possible to distinguish particular maternal lineages within populations, offering new opportunities for the comparison of these results with those from archaeological, anatomical, and linguistic approaches
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