Extremely limited mitochondrial DNA variability among the Aché Natives of Paraguay

R. Schmitt, S. L. Bonatto, L. B. Freitas, V. C. Muschner, K. Hill, A. M. Hurtado, F. M. Salzano

Research output: Contribution to journalArticlepeer-review

32 Scopus citations


Background: The Aché Natives are an especially interesting group of people, due to their distinctive morphological aspect and the fact that only in the last three decades have they established more permanent contact with outside populations. The objectives of the present study were: (a) to verify their distinctiveness in relation to mitochondrial DNA (mtDNA) variability; (b) to ascertain whether the pattern observed was congruent with other genetic studies performed among them; and (c) to establish historical inferences that would explain the eventual similarities or differences. Subjects and methods: Sample collection was made at two localities in eastern Paraguay. DNA from 64 maternally unrelated subjects were tested in relation to the mtDNA hypervariable segment 1 (HVS-1) by automatic sequencing. Results: Fifty-six individuals presented exactly the same haplogroup B founder haplotype; another differed from it by a single transition polymorphism at site 16362, while six other subjects showed an identical haplogroup A founding haplotype. An A/G heteroplasmy at the 16269 site was seen in one haplogroup B individual, probably due to a somatic mutation. Conclusions: The Aché present distinctive differences and reduced mtDNA HVS-1 variability compared to other South American Natives. Similar differences were observed for other genetic systems. At present it is not clear whether their peculiarities already existed in their founding populations or whether they were secondarily acquired due to a long period of isolation in the humid, subtropical forest.

Original languageEnglish (US)
Pages (from-to)87-94
Number of pages8
JournalAnnals of Human Biology
Issue number1
StatePublished - Jan 2004
Externally publishedYes

ASJC Scopus subject areas

  • Epidemiology
  • Physiology
  • Aging
  • Genetics
  • Public Health, Environmental and Occupational Health


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