title: Admixture estimates for Caracas, Venezuela, based on autosomal, Y-chromosome, and mtDNA markers.
abstract: The present Venezuelan population is the product of admixture of Amerindians, Europeans, and Africans, a process that was not homogeneous throughout the country. Blood groups, short tandem repeats (STRs), mtDNA, and Y-chromosome markers have been used successfully in admixture studies, but few such studies have been conducted in Venezuela. In this study we aim to estimate the admixture components of samples from two different socioeconomic levels from Caracas, Venezuela's capital city, compare their differences, and infer sexual asymmetry in the European Amerindian union patterns. Gene frequencies for blood groups ABO and Rh (CDE) and for the STRs VWA, F13A01, and FES/FPS and mtDNA and Y-chromosome haplogroups were studied in a sample of 60 individuals living in Caracas, taken from a private clinic (high socioeconomic level), and 50 individuals, also living in Caracas, drawn from a public maternity clinic (low socioeconomic level). The admixture analysis for the five autosomal markers gives a high European component (0.78) and an almost negligible African sub-Saharan component (0.06) for the high socioeconomic level, whereas for the low socioeconomic level the sub-Saharan, European, and Amerindian components were 0.21, 0.42, and 0.36, respectively. Estimates of admixture based on mtDNA and Y-chromosome markers reveal that the Amerindian contribution to these Caracas samples is almost entirely through females, because the Y-chromosome Amerindian and African sub-Saharan chromosomes found in this study were scarce. Our study reveals that the identification of the grandparents' geographic origin is an important methodological aspect to take into account in genetic studies related to the reconstruction of historical events.
authors.affiliation: Laboratorio de Genética Humana, Instituto Venezolano de Investigaciones Científicas, Apdo. 21827, Caracas 1020-A, Venezuela.
authors.forename: Helios
authors.initials: H
authors.lastname: Martínez
authors.forename: Alvaro
authors.initials: A
authors.lastname: Rodríguez-Larralde
authors.forename: Mary Helen
authors.initials: MH
authors.lastname: Izaguirre
authors.forename: Dinorah Castro
authors.initials: DC
authors.lastname: De Guerra
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics*; D005828:Genetics, Population; D005843:Geography; D006801:Humans; D008297:Male; D010641:Phenotype; D010865:Pilot Projects; D012204:Rh-Hr Blood-Group System / Q000235:genetics*; D012959:Socioeconomic Factors; D014687:Venezuela
chemical_list: D000017:ABO Blood-Group System; D004272:DNA, Mitochondrial; D005819:Genetic Markers; D012204:Rh-Hr Blood-Group System