Análisis de la estructura genética en una muestra poblacional de Bucaramanga, departamento de Santander

Abstract

Introduction: The phenomenon of substructure in the populations has been greatly analyzed for several years, and it hasbeen focused especially on the identification and quantification of ethnic mixture present in studies of associative mapping to verify the association of polymorphic markers in thedevelopment of complex and common diseases responsiblefor false positives. Nevertheless, despite the recognition ofthis issue, there is insufficient genetic information within thenational or local contexts that allow assessing the possibledifferentiation of population sub-groups in each particularregion.Objective: To determine the genetic structure in the cityof Bucaramanga through the analysis of 19 autosomalmicrosatellite markers in different subgroups of the population.Methodology: A total of 350 DNA samples were randomlyselected from the database of the Human Genetic Laboratoryat Universidad Industrial de Santander by using Epi Infoversion 6.04 2001. Also, 19 Short Tandem Repeat markers wereamplified using «kits Powerplex® 16 and FFFL (Promega)».Results: In the Hardy Weinberg equilibrium analysis (100steps in Markov chain and 1000 dememorization steps), nostatistically significant differences in 18 out of the 19 analyzedSTRs markers in the population of Bucaramanga were obtained.A unique marker that proved not present in HWE in thepopulation of Bucaramanga was the F13B (for a significancevalue of p=0.00264, after applying the Bonferroni correction).Discussion: The populations represented in the sixsocioeconomic levels presented high genetic diversityintragroups, which ratified the high variability among theindividuals in this city according to the low value of FST fordifferent groups, determined via the molecular analysis ofvariance based on the allelic frequencies observed for the 19analyzed Short Tandem Repeats.Conclusions: The high genetic diversity, as well as theanalysis of molecular variance displayed low divergence foreach of the six socioeconomic levels in the city of Bucaramanga.Therefore, it is suggested that this population is an equivalentgenetic unit and not substructured.