Genetic structure of the contemporary Cuban population for nine STR loci

Abstract

Short tandem repeats (STR) are, at the moment, the most convenient and powerful way to infer personal identification out of genome data obtained from scarce and highly degraded DNA. In the forensic context, personal identification from bones and other human remains is one of the most challenging tasks to solve in cases where traditional anthropology is insufficient to achieve that goal. In order to assess the usefulness of a set of microsatellites containing the loci HUMTH01, HUMTPOX, HUMCSF1PO, HUMvWA, HUMFESFPS, HUMF13A01, HUMF13B, HUMHPRTB and HUMLPL, reference databases were constructed for the three main racial groups of the contemporary Cuban population (Caucasoids, Mestizos and Negroids). Minimal allele frequencies were estimated following the expression described by Budowle [1] based on the predictions of the Infinite Alleles Model to avoid negative bias when rare alleles are considered. The distributions of allele frequencies were found to be similar to the ones reported by other authors at closely related population groups. A rare allele 5 was found, sequenced and characterized in Mestizo group at the HUMCSF1PO locus. Private alleles were found for the three groups. The three Cubans databases were validated for the presence of Hardy– Weinberg equilibrium and linkage disequilibrium using Markov Chain Monte Carlo methods. A few significant P-values were eliminated when Bonferoni-type corrections were done for the control of type I error, indicating both the validity of the sampling scheme done and the possibility of using the standard formulae to estimate the frequency of a multilocus profile in the Cuban population. The way genetic variation is distributed in