Balkan Journal of Medical Genetics

DETECTING SEX-BIASED GENE FLOW IN AFRICANAMERICANS THROUGH THE ANALYSIS OF INTRA- AND INTER-POPULATION VARIATION AT MITOCHONDRIAL DNA AND Y- CHROMOSOME MICROSATELLITES
Battaggia C1, Anagnostou P1,3, Bosch I4, Brisighelli F4, Destro-Bisol G1,3, Capocasa M2,3,*
*Corresponding Author: Dr. Marco Capocasa, Dipartimento di Biologia e Biotecnologie “Charles Darwin”, Università “La Sapienza”, Roma, Italy, P.le A. Moro 5, 00185 Roma, Italia; Tel.: +39-6-4991-2725; Fax: ++39-6-4991-2771; E-mail: marco.capocasa@uniroma1.it
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INTRODUCTION

The European contribution to the gene pool of African populations deported to the United States of America in the course of the Atlantic slave trade may be regarded to as a paradigmatic case of gene flow in human populations [1,2]. Coherently, studies of genetic structure of present day African-Americans have attracted a particular interest in molecular anthropology [3]. The earliest investigations based on protein loci estimated a 4.0-30.0% proportion of European genes in African-Americans, pointing to a higher admixture in northern rather than in southern US regions [6]. More recent studies, based on autosomal DNA poly-morphisms, highlighted the level of admixture for northern US populations to be lower than previously thought, and the lack of a close relationship between latitude and extent of European admixtures [7]. The introduction of uni linear DNA polymorphisms of mitochondrial DNA (mtDNA) and non recombining portions of Y-chromosome,has made it possible to separately study the male and female European contribution to the African-American gene pool [7-9]. Finally, further refinements have been obtained with the introduction of genome wide approaches [10,11]. In a previous study, we used 10 autosomal microsatel-lites and an Alu polymorphism to explore the genetic structure of an African-American population from Chicago, IL, USA [12]. In this study, we analyzed the variation at the mtDNA hypervariable region 1 (HVR-1) and at seven microsatellites of the Y-chromosome in the same population sample. Using a broad population dataset, we showed that comparisons of intra- and inter-population diversity parameters between African-Americans, Europeans and Africans may help detect sex-biased gene flow,providing a complement to quantitative methods to estimate genetic admixtures.

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