A revertant of the major founder native American haplogroup C common in populations from northern South America

作者：Torres MM; Bravi CM; Bortolini MC; Duque C; Callegari Jacques S; Ortiz D; Bedoya G; De Restrepo HG; Ruiz Linares A^*

来源：American Journal of Human Biology, 2006, 18(1): 59-65.

DOI：10.1002/ajhb.20461

We examined the mtDNA RFLP diversity of 17 Native American populations from Colombia. Five of the populations studied were found to have variable frequencies of a mtDNA type lacking the characteristic changes of haplogroups A-D. Sequencing of mtDNA HVS-I and II showed that this "null" RFLP type carries all the substitutions characteristic of Native American founder lineage C. A back mutation has therefore recreated the + 13,259 HincII/-13,262 AluI restriction sites that tipify RFLP haplogroup C. This revertant C lineage is further characterized by three changes in HVS-II sequence: C/T transitions at positions 115 and 152, and the deletion of an A residue at position 116. This lineage is observed at high frequency mostly in populations from Greenberg's Equatorial-Tucano linguistic family. Genetic structure analyses are consistent with the reversion mutation occurring at an early stage during the tribalization process.

• 出版日期2006-1