Genes SAS Laboratory

Medellín, Colombia

Genes SAS Laboratory

Medellín, Colombia
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Builes J.J.,GENES SAS Laboratory | Builes J.J.,University of Antioquia | Manrique A.,GENES SAS Laboratory | Manrique A.,University of Campinas | And 12 more authors.
Forensic Science International: Genetics Supplement Series | Year: 2015

Currently, all agencies of conformity assessment testing laboratory favor the participation in proficiency testing as a mechanism for quality assurance. In Colombia, the Genes Laboratory has been designated, since 2008, to perform, design and implement the proficiency testing for all the interested laboratories. In this report, we show the results of Colombian exercises Inter-laboratory Quality Control for the years 2013 and 2014. In both years the exercise consisted of one practical component, one theoretical mandatory component and a theoretical optional component. The participants were 23 and 20 laboratories in 2013 and 2014, respectively, representing seven different countries of Latin America and the Caribbean. For the practical component each participant laboratory receive; (1) samples of blood, saliva and/or semen stains, in this part they should report the routine own laboratory markers for each sample, (2) three optional theoretical cases of varying complexity, (3) a simple theoretical approach consistent of paternity case (father, mother and son) (2013) and a complex paternity case with a deceased father (2014). In the last two components of the exercise they had to submit only the calculations. In both years, for the practical component the consensus of 70 STR markers, distributed between autosomal and linked to the sex chromosomes, was achieved with an error rate of 1.75% and 3.07% for 2013 and 2014, respectively. On the other hand, for mandatory theoretical exercise, error rates of 21.74% (2013) and 10.63% (2014) were detected. This inter-laboratory exercise has become an important mechanism for quality assurance in the region. © 2015 Elsevier Ireland Ltd.


Urbano L.,University of Cauca | Portilla E.C.,University of Cauca | Munoz W.,University of Cauca | Sierra-Torres C.H.,University of Cauca | And 16 more authors.
Forensic Science International: Genetics Supplement Series | Year: 2015

The Colombian population, for his history contains an ancestral mix of Europeans, Native Americans and Africans, these mixing ratios can be determined by Ancestry-Informative Markers (AIMs), this markers allow us to observe stratification in genetic association studies. The aim of this study was to determine the mixing ratios in a population sample of 500 individuals the Department of Cauca, Colombia with three different origins (European, Native American and African) using a set of 46 AIMs insertion-deletion (AIM-INDELs). The software STRUCTURE v 2.3.4 was used to determine the ancestral mixture. The average composition of the population of the Department of Cauca was 48% for Native American, 39% for European and 14% for African. It showed that the ancestral composition of the Department of Cauca has a greater contribution of Native Americans and Europeans compared to Africans which could be explained by the European migrations during the conquest of America. © 2015 Elsevier Ireland Ltd.


Martinez B.,University of Cartagena | Builes J.J.,GENES SAS Laboratory | Builes J.J.,University of Antioquia | Aguirre D.,GENES SAS Laboratory | And 6 more authors.
Forensic Science International: Genetics Supplement Series | Year: 2015

The current population of the Bolivar Department is the result of admixture between the European settlers, African slaves and Native Americans. In order to know the ancestry proportions we analysed 46 AIM-InDels in 78 individuals belonging to the north region of this department, according to the methodology described in Pereira et al. [9]. All ancestry estimates were tri-hybrid; 21.5% of the contribution was African, 29.4% was Native American and 49.1% was European. This finding is coherent with recently reports of internal migration patterns. Our findings will be useful to investigate the influence of ethnicity in genetic complex diseases, like asthma and other prevalent conditions. © 2015 Elsevier Ireland Ltd.


Lopez M.,GENES SAS Laboratory | Manrique A.,GENES SAS Laboratory | Manrique A.,University of Campinas | Aguirre D.P.,GENES SAS Laboratory | And 9 more authors.
Forensic Science International: Genetics Supplement Series | Year: 2015

In this study, 10 X-STRs: DXS6809, DXS7423, GATA172D05, DXS6789, DXS9902, DXS7132, GATA31E08, DXS7133, DXS9898 and DXS8378 were analyzed in a population sample of Afro-descendants of the Department of Chocó-Colombia. A total of 285 individuals not biologically related were analyzed. All loci studied were in Hardy-Weinberg equilibrium and the markers presented high levels of discrimination power (DP) in men and women, and a power of exclusion (PE) set higher than 99.99% for both trios (father-mother-daughter) and duos (father-daughter). © 2015 Elsevier Ireland Ltd.


Garavito G.,North University | Martinez B.,University of Cartagena | Builes J.J.,GENES SAS Laboratory | Builes J.J.,University of Antioquia | And 7 more authors.
Forensic Science International: Genetics Supplement Series | Year: 2015

Ancestry Informative Markers InDels (AIM-InDels) show high allele frequency variation between ancestral populations and are useful to estimate individual and population ancestry. Our goal was to characterize the frequencies of 46 AIM-InDels in a population sample of 50 individuals from Barranquilla city, Atlantic Department in Colombia. The ancestral components were calculated according to the methodology described in [1]; using STRUCTURE v2.3.3 with a burnin length of 100,000 followed by 100,000 MCMC, with a. K = 3, considering the "Admixture Model" and correlated allele frequencies. As parental populations, the genetic profiles of 322 individuals (Africans: 105 Europeans: 158, Native Americans: 59) [1] and 42 Native American individuals [8] were used. The contribution of each founder population was estimated in: 24.7% of African, 27.6% of Native American and 47.7% of European. These findings reveal different admixture histories of the studied population, and generate reliable ancestry estimates useful to investigate association between ancestry and genetic complex disorders. © 2015 Elsevier Ireland Ltd.


Alzate L.N.,Free University of Colombia | Agudelo N.,Free University of Colombia | Builes J.J.,Genes SAS Laboratory | Builes J.J.,University of Antioquia
Forensic Science International: Genetics Supplement Series | Year: 2015

Although the most suitable people for the identification of missing persons are the parents and/or children of the disappeared, often these relatives are not available, the only alternative being the siblings. Research of biological relations between siblings and half siblings is commonly based on the use of autosomal markers; however, in some cases, the legally stipulated probability of likelihood ratio (LR) (≥0.9999) cannot be reached. This is the main reason, why it is important to consider the use of other markers such as those linked to the sex chromosomes (X and Y). In this study, we focused on the usefulness of X chromosome STRs for the establishment of relationships between siblings, we propose the implementation of them routinely in the identification of missing persons, a case type which in Colombia has increased due to the last decades of armed conflict. © 2015 Elsevier Ireland Ltd.

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