Abstract

HINCAPIE, Martha Lucía et al. An assessment of genetic structure in a Bucaramanga, department of Santander, population sample. Colomb. Med. [online]. 2009, vol.40, n.4, pp.361-372. ISSN 1657-9534.

Introduction: The phenomenon of substructure in the populations has been greatly analyzed for several years, and it has been focused especially on the identification and quantification of ethnic mixture present in studies of associative mapping to verify the association of polymorphic markers in the development of complex and common diseases responsible for false positives. Nevertheless, despite the recognition of this issue, there is insufficient genetic information within the national or local contexts that allow assessing the possible differentiation of population sub-groups in each particular region. Objective: To determine the genetic structure in the city of Bucaramanga through the analysis of 19 autosomal microsatellite markers in different subgroups of the population. Methodology: A total of 350 DNA samples were randomly selected from the database of the Human Genetic Laboratory at Universidad Industrial de Santander by using Epi Info version 6.04 2001. Also, 19 Short Tandem Repeat markers were amplified using «kits Powerplex® 16 and FFFL (Promega)». Results: In the Hardy Weinberg equilibrium analysis (100 steps in Markov chain and 1000 dememorization steps), no statistically significant differences in 18 out of the 19 analyzed STRs markers in the population of Bucaramanga were obtained. A unique marker that proved not present in HWE in the population of Bucaramanga was the F13B (for a significance value of p=0.00264, after applying the Bonferroni correction). Discussion: The populations represented in the six socioeconomic levels presented high genetic diversity intragroups, which ratified the high variability among the individuals in this city according to the low value of FST for different groups, determined via the molecular analysis of variance based on the allelic frequencies observed for the 19 analyzed Short Tandem Repeats. Conclusions: The high genetic diversity, as well as the analysis of molecular variance displayed low divergence for each of the six socioeconomic levels in the city of Bucaramanga. Therefore, it is suggested that this population is an equivalent genetic unit and not substructured.

Keywords : STRs; Population substructure; Allelic frequencies; Bucaramanga; Association studies.

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