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A 21 marker insertion deletion polymorphism panel to study biogeographic ancestry
Institution:1. University of Lausanne, School of Criminal Justice, Institute of Forensic Science, 1015 Lausanne-Dorigny, Switzerland;2. Leiden University, Mathematical Institute, Niels Bohrweg 1, 2333 CA Leiden, The Netherlands;1. University of Lausanne, School of Criminal Justice, Institute of Forensic Science, le batochime, 1015 Lausanne-Dorigny, Switzerland;2. University of Lausanne, University Center of Legal Medicine Lausanne and Geneva, Rue du Bugnon 21, 1011 Lausanne, Switzerland;1. University of Zurich, Department of Neurology, Switzerland;2. Department of Addiction and Psychotherapy, LVR-Clinic Bonn, Bonn, Germany;3. University of Bonn, Institute of Clinical Chemistry and Clinical Pharmacology, University Hospital of Bonn, Germany;4. Center for Addiction Research, Department of Psychiatry, Social Psychiatry and Psychotherapy, Hanover Medical School, Hanover, Germany;5. University of Zurich, Institute of Organic Chemistry, Switzerland;1. Zurich Institute of Forensic Medicine, University of Zurich, Switzerland;2. Department of Chemistry, Biotechnology and Food Science, Norwegian University of Life Sciences, Ås, Norway;3. Functional Genomics Centre Zurich (FGCZ), University of Zurich/ETH Zurich, Switzerland;1. Institute of Applied Genetics, Department of Forensic and Investigative Genetics, University of North Texas Health Science Center, 3500 Camp Bowie Blvd., Forth Worth, Texas 76107, USA;2. Life Technologies, 850 Lincoln Centre Drive, Foster City, California 94404, USA;3. Center of Excellence in Genomic Medicine (CEGMR), King Abdulaziz University, Jeddah, Saudi Arabia;1. Department of Genetics, Yale University School of Medicine, New Haven, CT, USA;2. Institute of Forensic Science, Istanbul University, Istanbul, Turkey;3. Turkish Cypriot DNA Laboratory, Nicosia (North Cyprus), Turkey;4. Dr. Faz?l Küçük Faculty of Medicine, Eastern Mediterranean University, Famagusta (North Cyprus), Turkey;5. Yale Center for Medical Informatics, Yale University School of Medicine, New Haven, CT, USA
Abstract:Insertion/deletion polymorphisms have recently received increased interest in the forensic genetics community. This class of markers combines the advantageous genetic properties of single nucleotide polymorphisms (i.e., low mutation rate, genetic stability, and short amplicon size) with the technical advantage of short tandem repeat markers (simple detection by fluorescence-labelled PCR and capillary electrophoresis). For a large number of indel markers significant differences in allele frequencies between the major populations have been reported, making this class of markers suitable for the analysis of biogeographic ancestry. We have developed a multiplex PCR assay designed to establish the biogeographic ancestry of forensic DNA samples based on insertion/deletion polymorphisms. A panel of 21 short indels with allele frequency differences between three major population groups (European, African and Asian) was selected to be incorporated into a single-tube multiplex PCR assay. The assay is highly sensitive, requiring less than 0.5 ng of genomic DNA for successful typing. Due to the short fragment lengths below 200 bp, the assay is ideally suited for the typing of challenging forensic genetic case work samples. A population genetic study has been performed proving the performance of the assay in inferring the ancestral population of individuals. The chosen 21 markers are sufficient to distinguish between three major global population groups. Furthermore, the assay design leaves room for an extension in order to cover additional population groups.
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