Performance of the SNPforID 52 SNP-plex assay in paternity testing |
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| Institution: | 1. LABANOF, Laboratorio di Antropologia ed Odontologia Forense, Istituto di Medicina Legale e delle Assicurazioni, v. Mangiagalli 37, Università degli Studi di Milano, Milano, Italy;2. Dipartimento di Chimica, Università degli Studi di Pavia, Via Taramelli 12, 27100 Pavia, Italy;1. Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Sciences, Ministry of Justice, Shanghai 200063, PR China;2. Institute of Forensic Medicine, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu 610041, PR China;3. Department of Forensic Medicine, Shanghai Medical College, Fudan University, Shanghai, PR China;4. Department of Forensic Science, Medical School of Soochow University, Suzhou 215123, PR China;5. Shanghai University of Medicine & Health Sciences, Shanghai 200237, PR China;1. BIOMICs Research Group, Centro de Investigación “Lascaray” Ikergunea, Universidad del País Vasco UPV/EHU, Vitoria-Gasteiz 01006, Basque Country, Spain;2. Department of Physical Anthropology, Society of Sciences Aranzadi, Donostia 20014, Basque Country, Spain;3. Department of Legal and Forensic Medicine, Faculty of Medicine, Universidad del País Vasco UPV/EHU, Donostia 20014, Basque Country, Spain;1. Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden;2. Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden;3. Forensic Genetics Unit, Institute of Legal Medicine, University of Santiago de Compostela, Santiago de Compostela, Spain;1. Banco Nacional de Datos Genéticos, Avda. Córdoba 831, C1054AAH Caba, Argentina;2. Department of Medical Genetics, University of Oslo, PB 4956 Nydalen, 0424 Oslo, Norway;3. Faculty of Chemistry, Biotechnology and Food Science, Norwegian University of Life Sciences, Chr. M Falsens vei 1, 1433 Aas, Norway;1. Department of Integrative Biology, The University of Texas at Austin, Austin, TX 78712, USA;2. Institute for Cellular and Molecular Biology, The University of Texas at Austin, Austin, TX 78712, USA;3. Institue for Neuroscience, The University of Texas at Austin, Austin, TX 78712, USA |
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| Abstract: | The performance of a multiplex assay with 52 autosomal single nucleotide polymorphisms (SNPs) developed for human identification was tested on 124 mother–child–father trios. The typical paternity indices (PIs) were 105–106 for the trios and 103–104 for the child–father duos. Using the SNP profiles from the randomly selected trios and 700 previously typed individuals, a total of 83,096 comparisons between mother, child and an unrelated man were performed. On average, 9–10 mismatches per comparison were detected. Four mismatches were genetic inconsistencies and 5–6 mismatches were opposite homozygosities. In only two of the 83,096 comparisons did an unrelated man match perfectly to a mother–child duo, and in both cases the PI of the true father was much higher than the PI of the unrelated man. The trios were also typed for 15 short tandem repeats (STRs) and seven variable number of tandem repeats (VNTRs). The typical PIs based on 15 STRs or seven VNTRs were 5–50 times higher than the typical PIs based on 52 SNPs. Six mutations in tandem repeats were detected among the randomly selected trios. In contrast, there was not found any mutations in the SNP loci. The results showed that the 52 SNP-plex assay is a very useful alternative to currently used methods in relationship testing. The usefulness of SNP markers with low mutation rates in paternity and immigration casework is discussed. |
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