Frequency and origins of hemoglobin S mutation in African-derived Brazilian populations

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dc.contributor.authorAuricchio, Maria Teresa Balester De Mello
dc.contributor.authorVicente, Joao Pedro
dc.contributor.authorMeyer, Diogo
dc.contributor.authorMingroni-Netto, Regina Celia
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2018-06-15T17:35:09Z
dc.date.available2018-06-15T17:35:09Z
dc.date.issued2007-12-01
dc.description.abstractAfricans arrived in Brazil as slaves in great numbers, mainly after 1550. Before the abolition of slavery in Brazil in 1888, many communities, called quilombos, were formed by runaway or abandoned African slaves. These communities are presently referred to as remnants of quilombos, and many are still partially genetically isolated. These remnants can be regarded as relicts of the original African genetic contribution to the Brazilian population. In this study we assessed frequencies and probable geographic origins of hemoglobin S (HBB*S) mutations in remnants of quilombo populations in the Ribeira River valley, Sao Paulo, Brazil, to reconstruct the history of African-derived populations in the region. We screened for HBB*S mutations in 11 quilombo populations (1,058 samples) and found HBB*S carrier frequencies that ranged from 0% to 14%. We analyzed beta-globin gene cluster haplotypes linked to the HBB*S mutation in 86 chromosomes and found the four known African haplotypes: 70 (81.4%) Bantu (Central Africa Republic), 7 (8.1%) Benin, 7 (8.1%) Senegal, and 2 (2.3%) Cameroon haplotypes. One sickle cell homozygote was Bantu/Bantu and two homozygotes had Bantu/Benin combinations. The high frequency of the sickle cell trait and the diversity of HBB*S linked haplotypes indicate that Brazilian remnants of quilombos are interesting repositories of genetic diversity present in the ancestral African populations.en
dc.description.affiliationUniv Sao Paulo, Hosp Clin, Dept Pediat, Fac Med, Sao Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent667-677
dc.identifier.citationHuman Biology. Detroit: Wayne State Univ Press, v. 79, n. 6, p. 667-677, 2007.
dc.identifier.issn0018-7143
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/43804
dc.identifier.wosWOS:000255102300006
dc.language.isoeng
dc.publisherWayne State Univ Press
dc.relation.ispartofHuman Biology
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjecthemoglobin S mutationen
dc.subjecthemoglobin C mutationen
dc.subjectbeta-globin gene cluster haplotypesen
dc.subjectsickle cell diseaseen
dc.subjectQuilombosen
dc.subjectBrazilen
dc.titleFrequency and origins of hemoglobin S mutation in African-derived Brazilian populationsen
dc.typeinfo:eu-repo/semantics/article
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