Frequency and Origins of Hemoglobin S Mutation in African-Derived Brazilian Populations

Bibliographic Data

ID8960516
AuthorsMaria Teresa Balester De Mello Auricchio (Universidade de São Paulo, corresponding author), João Pedro Vicente (Universidade de São Paulo, corresponding author), D Meyer (0000-0002-7155-5674, Universidade de São Paulo, corresponding author), Regina Célia Mingroni‐netto (0000-0001-9233-5227, Universidade de São Paulo, corresponding author)
Year2007
Volume79
Issue6
Pages667-677
Publication date2007-12-01
Peer ReviewedYes
Open AccessNo
TypeARTICLE
VenueHuman Biology (JOURNAL)
Journal identifiersISSN: 0018-7143 • E-ISSN: 1534-6617
PublisherHuman Biology (The International Journal of Population Biology and Genetics) (PUBLISHER)
DOI10.1353/hub.2008.0017
PMID18494376
OpenAlexW2148890659
LanguageEN
Citations received7
References cited8

Africans 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, São 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

Allele · Bantu languages · Biology · Ethnology · Gene · Gene pool · Genetic diversity · Geography · Haplotype · Mutation · Population · Demography · Forensic and Genetic Research · Genetics · Hemoglobinopathies and Related Disorders · History · Iron Metabolism and Disorders

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