Servicio de Genetica Forense

Paraná, Argentina

Servicio de Genetica Forense

Paraná, Argentina
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Toscanini U.,PRICAI Fundacion Favaloro | Gusmao L.,State University of Rio de Janeiro | Gusmao L.,University of Porto | Alava Narvaez M.C.,Laboratorio Of Genetica Regional Bogota Del Instituto Nacional Of Medicina Legal Y Ciencias Forenses | And 47 more authors.
Forensic Science International: Genetics | Year: 2016

Since 1992, the Spanish and Portuguese-Speaking Working Group of the ISFG (GHEP-ISFG) has been organizing annual Intercomparison Exercises (IEs) coordinated by the Quality Service at the National Institute of Toxicology and Forensic Sciences (INTCF) from Madrid, aiming to provide proficiency tests for forensic DNA laboratories. Each annual exercise comprises a Basic (recently accredited under ISO/IEC 17043: 2010) and an Advanced Level, both including a kinship and a forensic module. Here, we show the results for both autosomal and sex-chromosomal STRs, and for mitochondrial DNA (mtDNA) in two samples included in the forensic modules, namely a mixture 2:1 (v/v) saliva/blood (M4) and a mixture 4:1 (v/v) saliva/semen (M8) out of the five items provided in the 2014 GHEP-ISFG IE. Discrepancies, other than typos or nomenclature errors (over the total allele calls), represented 6.5% (M4) and 4.7% (M8) for autosomal STRs, 15.4% (M4) and 7.8% (M8) for X-STRs, and 1.2% (M4) and 0.0% (M8) for Y-STRs. Drop-out and drop-in alleles were the main cause of errors, with laboratories using different criteria regarding inclusion of minor peaks and stutter bands. Commonly used commercial kits yielded different results for a micro-variant detected at locus D12S391. In addition, the analysis of electropherograms revealed that the proportions of the contributors detected in the mixtures varied among the participants. In regards to mtDNA analysis, besides important discrepancies in reporting heteroplasmies, there was no agreement for the results of sample M4. Thus, while some laboratories documented a single control region haplotype, a few reported unexpected profiles (suggesting contamination problems). For M8, most laboratories detected only the haplotype corresponding to the saliva. Although the GHEP-ISFG has already a large experience in IEs, the present multi-centric study revealed challenges that still exist related to DNA mixtures interpretation. Overall, the results emphasize the need for further research and training actions in order to improve the analysis of mixtures among the forensic practitioners. © 2016 Elsevier Ireland Ltd


PubMed | Registro Nacional de ADN, Laboratorio Of Genetica Forense, University Miguel Hernández, Forensic Science Unit and 37 more.
Type: | Journal: Forensic science international. Genetics | Year: 2016

Since 1992, the Spanish and Portuguese-Speaking Working Group of the ISFG (GHEP-ISFG) has been organizing annual Intercomparison Exercises (IEs) coordinated by the Quality Service at the National Institute of Toxicology and Forensic Sciences (INTCF) from Madrid, aiming to provide proficiency tests for forensic DNA laboratories. Each annual exercise comprises a Basic (recently accredited under ISO/IEC 17043: 2010) and an Advanced Level, both including a kinship and a forensic module. Here, we show the results for both autosomal and sex-chromosomal STRs, and for mitochondrial DNA (mtDNA) in two samples included in the forensic modules, namely a mixture 2:1 (v/v) saliva/blood (M4) and a mixture 4:1 (v/v) saliva/semen (M8) out of the five items provided in the 2014 GHEP-ISFG IE. Discrepancies, other than typos or nomenclature errors (over the total allele calls), represented 6.5% (M4) and 4.7% (M8) for autosomal STRs, 15.4% (M4) and 7.8% (M8) for X-STRs, and 1.2% (M4) and 0.0% (M8) for Y-STRs. Drop-out and drop-in alleles were the main cause of errors, with laboratories using different criteria regarding inclusion of minor peaks and stutter bands. Commonly used commercial kits yielded different results for a micro-variant detected at locus D12S391. In addition, the analysis of electropherograms revealed that the proportions of the contributors detected in the mixtures varied among the participants. In regards to mtDNA analysis, besides important discrepancies in reporting heteroplasmies, there was no agreement for the results of sample M4. Thus, while some laboratories documented a single control region haplotype, a few reported unexpected profiles (suggesting contamination problems). For M8, most laboratories detected only the haplotype corresponding to the saliva. Although the GHEP-ISFG has already a large experience in IEs, the present multi-centric study revealed challenges that still exist related to DNA mixtures interpretation. Overall, the results emphasize the need for further research and training actions in order to improve the analysis of mixtures among the forensic practitioners.


PubMed | University of Buenos Aires, LIDMO, PRICAI Fundacion Favaloro, EAAF Forensic Genetic Laboratory and 5 more.
Type: | Journal: Forensic science international. Genetics | Year: 2016

Currently, autosomal Short Tandem Repeat (STR) markers represent the method of election in forensic human identification. Commercial kits of most common use nowadays -e.g. PowerPlex


Martinez G.G.,Servicio de Genetica Forense | Martinez G.G.,University of Zaragoza | Schaller L.C.,Servicio de Genetica Forense | Brondani A.,Servicio de Genetica Forense | And 2 more authors.
Forensic Science International: Genetics Supplement Series | Year: 2011

Allele frequencies for 15 short tandem repeat (STR) loci present in AmpFℓSTR® Identifiler® PCR Amplification Kit (Applied Biosystems) were obtained from a sample of 839 unrelated individuals undergoing paternity testing. This sample includes individuals from all regions in Entre Rios province of Argentina. The most polymorphic loci were FGA, D18S51 and D2S1338. All the analyzed loci meet Hardy-Weinberg equilibrium after Bonferroni correction. Total non-discrimination probability and combined power of exclusion for the 15 tested STR loci were 1.91×10-18 and 0.9999995, respectively. © 2011 Elsevier Ireland Ltd.


Martinez G.,Servicio de Genetica Forense | Martinez G.,University of Zaragoza | Schaller C.,Servicio de Genetica Forense | Nazar P.,Servicio de Genetica Forense | And 4 more authors.
Forensic Science International: Genetics Supplement Series | Year: 2015

DNA samples of hundred ten unrelated anonymized male individuals living in province of Entre Rios, Argentina, were genotyped using Investigador Argus X-12 system (Qiagen) for 12 STRs in four haplogroups. The frequency of most common haplotype was 0.02727, 0.06364, 0.03636, and 0.03636 for haplogroups 1, 2, 3, and 4, respectively. The Match Probability was 6.0E-08 and the mean exclusion chance was 0.999999936. This work presents the first haplotype frequency data for Investigator Argus X-12 system in a population of Argentina. © 2015.

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