Analysis of uni and bi-parental markers in mixture samples: Lessons from the 22nd GHEP-ISFG Intercomparison Exercise |
| |
| Affiliation: | 1. PRICAI-Fundación Favaloro, Buenos Aires, Argentina;2. DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil;3. IPATIMUP (Institute of Pathology and Molecular Immunology from de University of Porto), Porto, Portugal;4. I3s (Instituto de Investigação e Inovação em Saúde, Universidade do Porto), Porto, Portugal;5. Laboratorio de Genética Regional Bogotá del Instituto Nacional de Medicina Legal y Ciencias Forenses., Bogotá, Colombia;6. Lab. de Identificación Genética. Depto. de Medicina Legal, Toxicología y Antropología Física. Facultad de Medicina. Universidad de Granada, Granada, Spain;7. Institute of Public Sanity Section of Legal Medicine Catholic University of Sacred Heart, Rome, Rome, Italy;8. Studio Indagini Mediche E Forensi (SIMEF), Reggio Calabria, Italy;9. Laboratorio Genética Forense, Instituto de Medicina Legal de Las Palmas, ULPG., Las Palmas, Spain;10. Laboratorio de Genética Regional Suroccidente del Instituto Nacional de Medicina Legal y Ciencias Forenses., Cali, Colombia;11. Policia de la Generalitat − Mossos d''Esquadra, Divisió de Policia Científica, Unitat Central del Laboratori Biològic, Sabadell, Barcelona, Spain;12. Genética Forense, Unidad Criminalistica Contra la Vulneración de Derechos Fundamentales, Ministerio Público, Venezuela;13. Laboratório de Polícia Científica da Polícia Judiciária, Lisbon, Portugal;14. Institute of Criminalistics Prague, Prague, Czech Republic;15. Lab. Biológico de la Dirección Nacional de Policía Científica, Montevideo, Uruguay;p. Instituto de Pesquisa de DNA Forense, IPDNA, Polícia Civil do Distrito Federal, PCDF, Brasília, Brazil, and Secretaria Nacional de Segurança Pública do Ministério da Justiça, SENASP/MJ, Brasília, Brazil;q. Laboratorio de Análisis de ADN- Facultad de Ciencias Médicas- Universidad Nacional de Cuyo, Mendoza, Argentina;r. Forensic Science Unit, Forensic Genetics Section, Basque Country Police-Ertzaintza, Erandio, Bizkaia, Spain;s. Registro Nacional de ADN, Chile, Santiago de Chile, Chile;t. CGC Genetics, Madrid, Spain;u. GENOMICA, S.A.U., Madrid, Spain;v. Instituto Nacional de Toxicología y Ciencias Forenses, Delegación en Canarias, Santa Cruz de Tenerife, Spain;w. Laboratorio de Biología Forense. Dpto Patología y Cirugía. Universidad Miguel Hernández, Elche, Alicante, Spain;x. Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, and GenPop Research Group, Instituto de Investigaciones Sanitarias (IDIS), Hospital Clínico Universitario de Santiago, Galicia, Spain;y. Comisaría General de Policía Científica − Laboratorio de ADN, Madrid, Spain;z. Laboratorio de Genética Forense, Poder Judicial de Mendoza, Mendoza, Argentina;1. Servicio de Genética Forense, Superior Tribunal de Justicia de Entre Ríos, Paraná, Argentina;2. Laboratorio Regional de Genética Forense del NOA − Departamento Médico − Poder Judicial de Jujuy, Jujuy, Argentina;3. Instituto de Genética Forense. Poder Judicial de Córdoba, Córdoba, Argentina;4. Universita'' Politecnica Delle Marche, DSBSP, Section of Legal Medicine, Ancona, Italy;5. Biko SA, Montevideo, Uruguay;6. Instituto Nacional de Toxicología y Ciencias Forenses, Departamento de Sevilla, Sevilla, Spain;7. NASERTIC, Villava, Spain;8. Unidad de Analisis de ADN, Colegio Oficial de Farmaceuticos y Bioquímicos, Buenos Aires, Argentina;9. Serviço de Genética e Biologia Forenses, Instituto Nacional de Medicina Legal e Ciências Forenses, I.P. − Delegação do Norte, Porto, Portugal;10. Serviço de Genética e Biologia Forenses, Instituto Nacional de Medicina Legal e Ciências Forenses, I.P., Coimbra, Portugal;11. LabGenetics. Laboratorio de Genética Clínica S.L., Madrid, Spain;12. Dirección General de la Policía, Granada, Spain;13. Serviço de Genética e Biologia Forenses, Instituto Nacional de Medicina Legal e Ciências Forenses, I.P.-Delegação Sul, Lisbon, Portugal;14. Banco Nacional de Datos Genéticos, Buenos Aires, Argentina;15. Laboratorio de Biología y Genética Regional Noroccidente del Instituto Nacional de Medicina Legal y Ciencias Forenses., Medellín, Colombia;P. Servicio de Huellas Digitales Genéticas-Fac. Farmacia y Bioquímica-Universidad de Buenos Aires, Buenos Aires, Argentina;Q. Instituto Nacional de Toxicología y Ciencias Forenses, Departamento de Madrid. Servicio de Biología., Madrid, Spain;R. Unidad de Genética Forense, Servicio Médico Legal, Santiago, Chile;S. Instituto Nacional de Toxicología y Ciencias Forenses, Departamento de Barcelona, Barcelona, Spain;T. IACA Laboratorios, Bahía Blanca, Argentina;U. Laboratorio Genia Geo, Montevideo, Uruguay;V. Laboratorio Regional Patagonia Norte de Genética Forense – Poder Judicial de Río Negro, Bariloche, Argentina;W. Instituto de Medicina Legal de Valencia, Valencia, Spain;X. Genomic Engenharia Molecular, Sao Paulo, Brazil;1. Department of Microscopy, Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, Porto, Portugal;2. Unit for Multidisciplinary Research in Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, Porto, Portugal;3. Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal;4. Population Council''s Center for Biomedical Research, New York, USA;5. CICS-UBI – Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal;1. Service de dermatologie, hôpital Saint-Louis, AP–HP, 1, avenue Claude-Vellefaux, 75010 Paris, France;2. Service d’anatomie et cytologie pathologiques, hôpital Saint-Louis, AP–HP, 1, avenue Claude-Vellefaux, 75010 Paris, France;3. Institut Alfred-Fournier, 25, boulevard Saint-Jacques, 75014 Paris, France;1. Attending Physician, Department of Otolaryngology, Head and Neck Surgery and Maxillofacial Surgery, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel;2. Attending Physician, Department of Oral and Maxillofacial Surgery, Faculty of Dental Medicine, Hebrew University-Hadassah, Jerusalem, Israel;3. Attending Physician, Department of Otolaryngology, Head and Neck Surgery and Maxillofacial Surgery, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel;4. Attending Physician, Department of Otolaryngology, Head and Neck Surgery and Maxillofacial Surgery, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel;6. Unit Head, Department of Otolaryngology, Head and Neck Surgery and Maxillofacial Surgery, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel;5. Attending Physician, Department of Reconstructive and Aesthetic Surgery, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel;7. Department Head, Department of Plastic Surgery, Carmel Medical Center, Haifa, Israel;11. Professor, Department Head, Department of Otolaryngology, Head and Neck Surgery and Maxillofacial Surgery, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel;1. CICS – Health Sciences Research Centre, University of Beira Interior, Avenida Infante D. Henrique, 6200-506 Covilhã, Portugal;2. Department of Paediatrics, Cova da Beira Hospital Centre, Covilhã, Portugal;3. Quality Management Unit, Cova da Beira Hospital Centre, Covilhã, Portugal;4. Allergy Department, Castelo Branco Local Health Unit, Castelo Branco, Portugal;5. Department of Pediatrics, Salamanca University Hospital, Spain;6. Center for Research in Allergy and Clinical Immunology (HC/UFPE), Federal University of Pernambuco, Recife, Brazil;7. Psychology and Education Department, University of Beira Interior, Covilhã, Portugal;8. Department of Allergy & Clinical Immunology, Cova da Beira Hospital Centre, Covilhã, Portugal |
| |
| Abstract: | 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. |
| |
| Keywords: | GHEP-ISFG Intercomparison Exercise Forensic mixtures Autosomal STRs Y-chromosome mtDNA |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
