Extremely limited mitochondrial DNA variability among the Aché Natives of Paraguay

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

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

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
Volume31
Issue number1
DOIs
StatePublished - Jan 2004
Externally publishedYes

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Paraguay
Mitochondrial DNA
Population Groups
mitochondrial DNA
Haplotypes
haplotypes
somatic mutation
North American Indians
Population
genetic polymorphism
Mutation
DNA
sampling
methodology

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Public Health, Environmental and Occupational Health

Cite this

Extremely limited mitochondrial DNA variability among the Aché Natives of Paraguay. / Schmitt, R.; Bonatto, S. L.; Freitas, L. B.; Muschner, V. C.; Hill, Kim; Hurtado, Ana; Salzano, F. M.

In: Annals of Human Biology, Vol. 31, No. 1, 01.2004, p. 87-94.

Research output: Contribution to journalArticle

Schmitt, R. ; Bonatto, S. L. ; Freitas, L. B. ; Muschner, V. C. ; Hill, Kim ; Hurtado, Ana ; Salzano, F. M. / Extremely limited mitochondrial DNA variability among the Aché Natives of Paraguay. In: Annals of Human Biology. 2004 ; Vol. 31, No. 1. pp. 87-94.
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