The β-globin gene cluster distribution revisited - Patterns in native American populations

Sidia M. Callegari-Jacques, Shaiane G. Crossetti, Fabiana B. Kohlrausch, Francisco M. Salzano, Luiza T. Tsuneto, Maria Luiza Petzl-Erler, Kim Hill, A. Magdalena Hurtado, Mara H. Hutz

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20 Scopus citations


New frequencies for the β-globin gene cluster haplotypes are presented for the Aché (N = 82 individuals), Guarani (N = 76), and Kaingang (N = 54), three Native South American populations that live in an area between parallels 20°S and 30°S not covered by previous studies at this locus. The haplotype frequencies obtained for the three populations are within the interval observed for 28 other Native American populations. The Aché show much less haplotypes (five) than the other two populations (9-10), the haplotype prevalences being more similar to those of the Guarani than to the Kaingang. The Native American total heterozygosity was about half (0.41) that obtained for the African populations (0.71), but was not much different from those obtained for other continents. A geographical pattern was disclosed in South America by mapping the frequencies of the most common haplotype (haplotype 2), and by means of spatial correlation analysis. The analysis of molecular variance (AMOVA) and pairwise FST data suggest three distinct sectors for the genetic landscape of Native South America: the Andes, the Center/Southeast region, and the Amazon.

Original languageEnglish (US)
Pages (from-to)190-197
Number of pages8
JournalAmerican journal of physical anthropology
Issue number2
StatePublished - Oct 2007
Externally publishedYes


  • Genetic diversity
  • Language and genetics
  • South American gene geography

ASJC Scopus subject areas

  • Anatomy
  • Anthropology


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