title: Estimation of inbreeding and substructure levels in African-derived Brazilian quilombo populations.
abstract: This article deals with the estimation of inbreeding and substructure levels in a set of 10 (later regrouped as eight) African-derived quilombo communities from the Ribeira River Valley in the southern portion of the state of São Paulo, Brazil. Inbreeding levels were assessed through F-values estimated from the direct analysis of genealogical data and from the statistical analysis of a large set of 30 molecular markers. The levels of population substructure found were modest, as was the degree of inbreeding: in the set of all communities considered together, F-values were 0.00136 and 0.00248 when using raw and corrected data from their complete genealogical structures, respectively, and 0.022 and 0.036 when using the information taken from the statistical analysis of all 30 loci and of 14 single-nucleotide polymorphic loci, respectively. The overall frequency of consanguineous marriages in the set of all communities considered together was ∼ 2%. Although modest, the values of the estimated parameters are much larger than those obtained for the overall Brazilian population and in general much smaller than the ones recorded for other Brazilian isolates. To circumvent problems related to heterogeneous sampling and virtual absence of reliable records of biological relationships, we had to develop or adapt several methods for making valid estimates of the prescribed parameters.
authors.affiliation: 1 Department of Genetics and Evolutionary Biology, Institute of Biosciences, Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Renan B
authors.initials: RB
authors.lastname: Lemes
authors.forename: Kelly
authors.initials: K
authors.lastname: Nunes
authors.forename: Diogo
authors.initials: D
authors.lastname: Meyer
authors.forename: Regina Célia
authors.initials: RC
authors.lastname: Mingroni-Netto
authors.forename: Paulo A
authors.initials: PA
authors.lastname: Otto
mesh_terms: D044383:Black People; D001938:Brazil / Q000453:epidemiology; D003241:Consanguinity; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D010802:Phylogeny; D015995:Prevalence
keywords: inbreeding; population isolates; quilombo remnants; substructure analysis