24th World Congress of the International Society for Forensic Genetics August 29–September 3, 2011 University of Vienna, Austria Book of Abstracts www.isfg2011.org 24th World Congress of the International Society for Forensic Genetics August 29–September 3, 2011 University of Vienna, Austria Wolfgang R. Mayr Congress President ISFG 2011 University Clinic for Blood Group Serology and Transfusion Medicine Medical University of Vienna Währinger Gürtel 18–20 A-1090 Vienna, Austria Tel. (+43/1) 40 400-5337 Fax (+43/1) 40 400-5321 e-mail [email protected] Scientific Committee Wolfgang R. Mayr, Vienna, President Leonor Gusmao, Porto Niels Morling, Copenhagen Mechthild Prinz, New York Peter M. Schneider, Cologne Local Organizing Committee Wolfgang R. Mayr, Vienna, President Eva-Maria Dauber, Vienna, Secretary Congress Secretariat AUSTROPA INTERCONVENTION Verkehrsbüro Kongress Management GmbH Vienna, Austria www.austropa-interconvention.at www.isfg2011.org Design and pre-print production: ECKART Grafik-Design, www.eckart.cc Table of Contents Abstracts Oral Presentations 4 Poster Presentations 29 Scientifi c Topics of the Poster Presentations Forensic applications of human polymorphisms P001 – P063 30 – 61 Prediction of externally visible physical traits/forensic DNA phenotyping P064 – P074 61 – 66 Forensic molecular genetics P075 – P137 67 – 98 Population genetics of polymorphisms of forensic interest P138 – P209 98 – 134 DNA typing methodologies and strategies P210 – P328 134 – 193 Biostatistics P329 – P338 194 – 198 Standards and quality control P339 – P355 199 – 207 Forensic DNA databases P356 – P380 208 – 220 Genetic analysis of forensic non-human material P381 – P402 220 – 231 Ethical and legal issues related to forensic genetics P403 – P408 231 – 234 Author Index 235 3 24th World Congress of the International Society for Forensic Genetics (ISFG) August 29–September 3, 2011, University of Vienna, Austria O 01 ASSESSING THE POTENTIAL OF NEXT GENERATION SEQUENCING TECHNOLOGIES FOR MISSING PERSONS IDENTIFICATION EFFORTS Irwin, J.1, Just, R.1, Loreille, O.1 1 Armed Forces DNA Identification Laboratory, Rockville, MD, USA Developments in DNA sequencing methods have advanced rapidly over the past few years, and new technologies that produce large volumes of data at low cost (relative to current platforms) are being broadly applied to various questions in medical genetics, evolutionary biology, molecular anthropology and genomics. These so-called next generation sequencing (NGS) technologies present an entirely new paradigm for DNA sequence data generation and have the potential to completely redefine the acquisition and utility of genetic data in a variety of forensic casework scenarios. In order to assess the utility of NGS for missing persons applications, we have recently initiated a study of various platforms and target enrichment strategies for sample types regularly encountered in our large-scale identification efforts. Specific laboratory workflows based on target marker enrichment and NGS platform are being considered for different sample types, and the overall effort is being undertaken with a strong emphasis on both raw data and final consensus sequence quality. The current study is first and foremost a general evaluation of these technologies from the standpoint of forensic application, yet the strategy we are pursuing is ultimately intended to facilitate NGS integration into standard casework laboratories. We are, therefore, evaluating NGS workflows and data for the standard nuclear and mitochondrial DNA markers used in forensics, while still allowing for future work that may take greater advantage of the strengths of these tech nologies. Here, we present an overview of our NGS strategy, along with the preliminary results of these efforts. O 02 SHORT TANDEM REPEAT SEQUENCING ON THE 454 PLATFORM Scheible, M.1, Loreille, O.1, Just, R.1, Irwin, J.1 1 Armed Forces DNA Identification Laboratory, Rockville, MD, USA The development of reduced size amplicons for short tandem repeat (STR) markers has increased the success of typing samples with degraded DNA (Butler et al. 2003, Coble and Butler 2005, Grubwieser et al. 2006, Hill et al. 2008). However, when separating these alleles using capillary electrophoresis, the number of loci that can be multiplexed together is limited by the number of available dyes. Those loci with overlapping size ranges must either be labeled with different dyes or amplified in separate multiplexes (Hill et al. 2008). One potential solution to this limitation of standard chemistries and detection platforms is next generation sequencing technology based on clonal amplification followed by emulsion PCR and pyrosequencing (Margulies et al. 2005). With this strategy, many loci with overlapping amplicon size ranges can be multiplexed in one reaction, which allows conservation of valuable sample extract. In order to investigate the feasibility of next generation sequencing technology for the multiplex detection and sequence production of short tandem repeats, thirteen STR markers (CSF1PO, D2S441, D3S1358, D5S818, D7S820, D8S1179, D10S1248, D13S317, D16S539, D21S11, D22S1045, TPOX, and vWA) were amplified using an optimized multi plex reaction (Pitterl et al. 2008) with primer sequences designed for reduced size amplicons (Butler et al. 2003, Coble and Butler 2005). Each sample multiplex was barcoded with a different sample- specific multiplex identifier (MID) for subsequent parallel tagged sequencing on the GS Junior System (454 Life Sciences, Branford, CT). Here, we present the results of our preliminary data assessments. 4 24th World Congress of the International Society for Forensic Genetics (ISFG) August 29–September 3, 2011, University of Vienna, Austria O 03 A NEW ULTRADEEP LT (LOW TEMPLATE) DNA PROFILING APPROACH BASED ON AN EMULSION-BASED CLONAL AMPLIFICATION OF AN STRS MULTIPLEX PCR PRODUCT FOLLOWED BY MASSIVE PYROSEQUENCING Berti, A.1, Barni, F.1, Pilli, E.2, Rizzi, E.3, Pianese, A.1, Corti, G.3, De Bellis, G.3, Caramelli, D.2 1 Reparto Carabinieri Investigazioni Scientifiche di Roma, Sezione di Biologia, Rome, Italy 2 Dipartimento di Biologia Evoluzionistica, Laboratori di Antropologia, Università di Firenze, Via del Proconsolo 12, 50122 Florence, Italy 3 Istituto di Tecnologie Biomediche (ITB), Consiglio Nazionale delle Ricerche (CNR), Via F.lli Cervi 93, 20090 Segrate, Milan, Italy Due to an insufficient quantity and quality of the template DNA and often to the presence of PCR inhibitory compounds, frequently, evidentiary items collected at the crime scene do not allow to obtain complete or even partial DNA interpretable profiles using standard forensic STRs DNA analyses. This has led to introduce several modifications to the traditional STRs genotyping methodologies known as LT DNA profiling which often allow to recover all the genetic information even from a trace containing DNA at or beneath the stochastic threshold. Nonetheless LT DNA profiling suffers of several disadvantages known as stochastic sampling effects (exagger- ated stutter, relevant peak height imbalance, allelic drop-out and allelic drop-in). In an attempt to overcome these drawbacks and to improve the sample DNA limit of detection of the new STRs multiplexes kits we developed a new approach involving a first step of multiplex PCR amplification by the new generation kits and an emulsion-based clonal amplification of the PCR products followed by a massively paral- lel pyrosequencing by the FLX-Titanium Genome Sequencer (Roche/454 Life Sciences). This new approach was conducted over several LT DNA samples (both pure DNA and DNA deriving from saliva and blood samples and real traces) at various dilution factors (down to 6 pg) and in comparison with the conventional new genera- tion multiplexes. It revealed capable of genotyping each sample providing in about the 90% of samples full interpretable STRs DNA profiles quantitatively giving, for each sample, the complete STRs alleles population enclosed in a PCR product. O 04 VALIDATION STUDIES ON THE APPLIED BIOSYSTEMS 3500 GENETIC ANALYZER Butts, E.1, Kline, M.1, Duewer, D.1, Hill, C.1, Butler, J.1, Vallone, P.1 1 U.S. National Institute of Standards and Technology, Biochemical Science Division, Gaithersburg, Maryland, USA The need to internally validate new technology is an on-going process within the forensic DNA community. Rapid technology developments require confirmation that the new platform or method generates reliable and reproducible results. The Applied Biosystems 3500 genetic analyzer is the newest capillary electrophoresis (CE) instrument that is available to the forensic DNA community. An internal validation was performed using several commercial short tandem repeat (STR) multiplex kits. Validation experiments to evaluate the performance of this CE instrument consisted of studies/evaluations of pre- cision, sensitivity, genotype concordance, two-person mixtures, and signal normalization. Precision was assessed through multiple injections of the appropriate STR kit allelic ladder, and base pair sizing was evaluated within a single injection (8 capillaries) and across multiple injections. Duplicate injections of amplified DNA template ranging from 1.0 ng down to 0.01 ng were evaluated to establish analytical and stochastic thresholds. Genotype concord- ance was established through parallel injections on a 3130xl instrument. Two samples, heterozygous at more than 13 loci were evaluated for the mixture study in combination ratios of 1:1, 1:2, 1:3, 1:5, 1:7, 1:9,