A. Carracedo B. Brinkmann W. Bar (Eds.) Advances in Forensic Haemogenetics 6 Advances in Forensic Haernogenetics 6 16th Congress of the International Society for Forensic Haemogenetics (Internationale Gesellschaft fUr forensische Hamogenetik e.V.) Santiago de Compostela, 12-16 September 1995 Edited by A. Carracedo, B. Brinkmann and W. Bar , Springer Professor Dr. med. ANGEL CARRACEDO University of Santiago de Compostela Institute of Legal Medicine c/San Francisco sIn E-1S70S Santiago de Compostela Professor Dr. med. BERND BRINKMANN Universitat Munster Institut fur Rechtsmedizin Von-Esmarch-StraBe 86 D-48149 Munster Professor Dr. med. WALTER BAR University of Zurich Institute for Legal Medicine WinterthurerstraBe 190 CH-80S7 Zurich ISBN-13: 978-3-540-60492-1 e-ISBN-13: 978-3-642-80029-0 DOl: 10.1007/978-3-642-80029-0 Die Deutsche Bibliothek - CIP·Einheitsaufnahme International Society for Forensic Haemogenetics: ... Congress of the International Society for Foren sic Haemogenetics (Internationale Gesellschaft fiir Forensische Hiimogenetik e.V.) - Berlin; Heidel berg; New York; London; Paris; Tokyo; Hong Kong, Barcelona; Budapest: Springer. Bis 12 (1988) u.d.T.: Society for Forensic Haemogenetics: ... Congress of the Society for Forensic Haemogenetics 16. Santiago de Compostela. - 1996 (Advances in forensic haemogenetics; 6) NE:GT This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustration, recitation, broadcasting, reproduction on microfilms or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provisions of the German Copyright Law of September 9, 1965, in its current version, and permission for use must always be obtained from Springer-Verlag. Violations are liable for prosecution under the German Copyright Law. © Springer-Verlag Berlin Heidelberg 1996 The use of general descriptive names, registered names, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Product liability: The publishers cannot guarantee the accuracy of any information about dosage and application contained in this book. In every individual case the user must check such information by consulting the relevant literature. Typesetting: Camera ready by authors SPIN: 10510780 19/3133-5 4 3 2 1 - Printed on acid-free paper Preface The 6th volume of "Advances in Forensic Haemogenetics" comprises the scientific contributions to the 16th Congress of the International Society for Forensic Haemogenetics ISFH held on Sept., 12-16, 1995 at Santiago de Compostela, Spain. The numerous papers mainly deal with the applicability of DNA technology to forensic questions. The invited speakers approached important topics such as variation of mitochondrial DNA in ancient and modern humans, the "STR approach" to solve forensic questions, the statistical analysis of STR data, automation of DNA analysis, long PCR and its applications, national DNA databases and ethical and legal aspects of DNA analysis. It has become obvious that PCR based polymorphic systems clearly dominate the scene of forensic DNA analysis worldwide. It will however be necessary to make efforts to standardize the still increasing number of systems with regard to nomenclature to achieve a universal comparability of results. Legal systems differ from country to country which has to be taken into account when reporting DNA results. There is still controversy about the way DNA results are to be presented in court-rooms. We should make efforts to assess the value of DNA evidence by a common scientifc statistical approach that is comprehensive enough to treat all possible hypotheses such as involved relatives, different ethnics and/or the not so rare situations with mixed stains. On behalf of the Executive Committee of our society I would like to thank all the authors of the articles of this volume and Springer-Verlag for having made such a quick publication possible. A special thank you goes to the organizing committee of this congress and his president Prof. Luis Concheiro and to the Congress president Prof. Angel Carracedo and the rector of the University of Santiago de Compostela for their enormous hospitality. WALTERBXR President ISFH Contents 1 Mitochondrial DNA Mitochondrial DNA Variation in Ancient and Modern Humans 3 E. Hagelberg A Two Stage Strategy for the Automated Analysis of Mitochondrial DNA ....... 11 K.M. Sullivan, G. Tully, R. Alliston-Greiner, A. Hopwood, J.E. Bark, and P. Gill Mixing and Thermic Treatment of Mitochondrial peR Fragments Reveal Sequence Differences by Heteroduplex Formation - A Rapid Method for Forensic Identity Testing. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 14 R. Szibor, I. Plate, E. Kirches, and D. Krause Genetic Analysis of Single Hair Shafts by Automated Sequence Analysis of the Mitochondrial D-Loop Region .................... . 17 R. Decorte, E. Jehaes, F.-X. Xiao, and J.-J. Cassiman Mitochondrial HVR 1 Polymorphism in Italy .. . . . . . . . . . . . . . . . . . . . . .. 20 E. d'Aloja, I. Boschi, A. Moscetti, M. Dobosz, V.L. Pascali, and A. Fiori mtDNA Sequences in Norwegian Saami and Main Populations. . . . . . . . . . . 23 B.M. Dupuy and B. Olaisen Mitochondrial DNA Quantification in Animal Blood and Hair by Slot Blotting ... 26 F. Fridez and R. Coquoz Detection of Sequence Variants in Hypervariable Segments of Mitochondrial DNA in the Asian Population . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 29 K. Honda, M. Nakatome,S. Hanhara, Zaw Tun, M.N. Islam, H. Bai, Y. Ogura, H. Kuroki, M. Yamazaki, M. Terada, S. Misawa, and C. Wakasugi Routine Mitochondrial DNA Identification . . . . . . . . . . . . . . . . . . . . . . . .. 32 C. Tesson, A. Penaud, M.G. Le Roux, A. Millaseau, V. Guibert, J.P. Moisan, o. and Pascal Automated Fluorescent Sequencing of Mitochondrial DNA for Italian Population Frequency Data . . . . . . . . . . . . . . . . . . . . . . . . . . .. 35 P. Montagna, R. Biondo, S. Tavano, S. Giuliacci, A. Pezza, and A. Spinella VIII 2 DNA Sequencing Data The STR Approach ....................................... 41 B. Brinkmann Analysis of Sequence Variations in the Alleles From Three STR Loci . . . . . . . . .. 52 1. Perlee, J. Neuweiler, and 1. Balazs AMPFLP Typing for the HUMCD4 STR Polymorphism in an Austrian Caucasoid Population Sample: Sequence Data and Allele Distribution . . . . . . . . . . . . . . .. 55 B. Glock, D. W.M. Schwartz, EM. Dauber, E.M. Schwartz-Jungl, and W.R. Mayr Typing of the HUMVWA Microsatellite Polymorphism: Allele Frequencies and Sequencing Data . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 58 D. W.M. Schwartz, E.M. Dauber, B. Glock, and W.R. Mayr Sequencing and Size Determination of the D1S80 Interallele . . . . . . . . . . . . . .. 60 H. Fukushima, N. Harashima, Y. Katsuyama, M. Ota, C. Y. Liu, and Y. Hama Analysis of the Short Tandem Repeat Polymorphism D 18S51: Allele Frequencies and Sequence Studies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 63 P. Berschick and J. Reinhold Investigation of the STR HUMLIPOL in Austrian Caucasoid Individuals: Sequence Data and Allele Frequencies ..................................... 66 B. Glock, D. W.M. Schwartz, E.M. Dauber, E.M. Schwartz-Jungl, and W.R. Mayr D 12S391: A Highly Useful STR for Forensic Purposes . . . . . . . . . . . . . . . . . .. 69 M. V. Lareu, F. Barros, A. Salas, C. Pestoni, 1. Munoz, M.S. Rodrfguez-Calvo, and A. Carracedo DNA Sequence Analysis ofPCR Products of MCT1l8 Locus in Japanese DNA Samples ................................... 72 K. Sekiguchi, 1. Sakai, N. Mizuno, K. Yoshida, K. Kasai, H. Sato, and S. Seta 3 Statistics Statistical Analysis of STR Data . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 79 1. W. Evett and J S. Buckleton The Use of Likelihood Ratios in Reporting Difficult Forensic Cases . . . . . . . . . .. 87 D.L. Monahan, S J. Cordiner, and J S. Buckleton Identification of Biological Stains: Probability ofIdentity or of Kinship . . . . . . . .. 90 K. Humme~ W. Bar, and N. Fukshansky Decision-Making in Paternity Diagnostics Using SLPs. .................. 93 B. Olaisen and M. Stenersen Hardy-Weinberg Equilibrium in RFLP Databases ..................... 96 C.H. Breener Sedna: A Computer Program for Semiparametric Estimation of Densities and Match Probabilities in DNA Forensic Identification and Paternity Cases ..... 99 D. Alonso, R. Cao, A. Carracedo, and E. Valverde IX DNA PCR Polymorphisms in Paternity Test Protocols: A Biostatistical Approach.. 102 R. Domenici, S. Fornaciar~ M. Nardone, A. Rocch~ 1. Spinetti, M. Ventur~ and M. Bargagna 4 DNA Polymorphisms Methods for Typing the STR Triplex CSFIPO, TPOX, and HUMTHOI That Enable Compatibility Among DNA Typing Laboratories. . . . . . . . . . . . . . . . . . . .. 107 B. Budowle, B. W. Koons, K.M. Keyes, and J.B. Smerick) Selection of STR Loci for Forensic Identification Systems . . . . . . . . . . . . . . .. 115 A.J. Urquhart, N.J. Oldroyd, T. Downes, M. Barber, R. Allison-Greiner, c.P. Kimpton, and P.D. Gill PCR Typing of Alu Elements: Molecular Genetics and Forensic Application 118 P.M. Schneider, L. Zhang, C. Esdar, G. Rittner, M.A. Batzer, and C. Rittner An Investigation of Variation in the Sizing of Short Tandem Repeat Loci. . . . . .. 121 D. Syndercombe Court, C. Phillips, J. Thomson, and P. Lincoln Male Identification Using Y Chromosomal STR Polymophisms . . . . . . . . . . .. 124 L. Roewer, M. Kayser, M. Nagy, and P. de Kniiff Corresponding Repeats in STRs and Internal Standard in Fragment Analysis . . .. 127 B.M. Dupuy and B. Olaisen Construction and Calibration of Allelic Ladders for the PCR-Based Systems D8S320 andAR ............................................. 130 P. Huber, W. Schmidt, andJ. Holtz Establishment of a Highly Discriminating Pentaplex PCR System for Detection of PCR Fragments in Silver-Stained Polyacrylamide Gels . . . . . . . . . . . . . . .. 133 H. Haas and G. Weiler Multiplex Amplifications and Automated Fluorescent Typing of Short Tandem Repeat (STR) Loci: The French Experience . . . . . . . . . . . . .. 139 F. Rousselet, H. Pjitzinger, and P. Mangin A Tetraplex PCR System for the Analysis of Paternity Cases .............. 142 C. Seid~ O. Jager, and E. Seifried Development and Applications of High Throughput Multiplex STR Systems. . . .. 145 J. Schumm, C. Sprecher, A. Lins, and K. Micka Properties of an STR Muliplex Marker System Suitable for Paternity and Forensic Determinations ................................ 148 J. Neuweiler, L. Perlee, J. Venturini, and 1. Balazs Analysis ofDlS80 VNTR Allele Polymorphisms and Association with a Nearby Flanking Sequence Polymorphism in Two Spanish Populations 151 o. C. Albarran, Garda, R. Deka, A. Alonso, P. Mart{n, M. Sancho, D.N. Stievers, and R. Chakraborty Somatic Instability in Cancer at Seven Tetrameric STR Loci Used in Forensic Genetics. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 154 A. Alonso, P, Martin, C. Albarran, A. Guzman, B. Aguilera, H. Oliva, and M. Sancho x Null Alleles Detection in Loci DIS7, D7S21, and DI2S11 by PCR . . . . . . . . . . .. 157 S. Alonso, A. Castro, 1. Ferndndez-Ferndndez, A. Garda-Orad, G. Tamayo, and M.Martfnez de Pancorbo Mutation Rate Variation in the Hypervariable VNTR g3 (D7S22) is Associated with a Flanking DNA Sequence Polymorphism near the Repeat Array ............ 160 R. Andreassen and B. Olaisen The Approach of Using Random Priming for Small Forensic DNA Samples 163 A. Baasner, M. Prinz, and C. Schmitt Use of PCR Triplex System for DNA Typing of Forensic Samples ........... 167 M.L. Baird, L. Perlee, J. Neuweiler, L. Galbreath, and 1. Balazs Evaluation of New STR Loci for Forensic DNA Typing. . . . . . . . . . . . . . . . .. 171 R.Coquoz Automated Profiling of Multiplexed DNA Markers: An Italian Database of Four Co-Amplified STR Loci. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 174 F. De Stefano, L. Casarino, M.G. Costa, A. Mannucc~ and G. Bruni Microbial DNA Challenge Studies ofPCR-Based Systems Used in Forensic Genetics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 177 A. Ferndndez-Rodriguez, A. Alonso, C. Albarrdn, P. Martin, M.J. Iturralde, M. Montesino, and M. Sancho Some Critical Comments and Experimental Calculations Used as Validation Standards in the Implementation ofRFLP Analysis 180 1. C. Flores, G. Repetto, and P. Sanz Analysis of Somatic Mutations at Short Tandem Repeat Loci in Colorectal Carcinomas. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 183 P. Hoff-Olsen, G.I. Meling, and B. Olaisen Simple and Rapid Duplex PCR for Forensic and Paternity Testing. . . . . . . . . .. 186 K. Lalu and M. Lukka Genetic Studies ofa STR at the UGB Locus . . . . . . . . . . . . . . . . . . . . . . .. 189 P. Leyenda and B. Caeiro Tumor Inocculation between Two Unrelated Human Individuals: STR Analysis of Paraffin-Embedded Tissue Section. . . . . . . . . . . . . . . . . . . . . . . . . . .. 192 C. Luckenbach, V.H. Gartner, C. Seidl, and H. Ritter Molecular Phenotyping ofTwo Trinucleotide Repeats (XT00444 and D5S373): Experimental Conditions. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 195 J.R. Luis and B. Caeiro Development and Optimisation of a Highly Discriminating Multiplex PCR System Suitable for Forensic Identification . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 198 N.J. Oldroyd, A.J. Urquhart, C.P. Kimpton,E.S. Millican, S.K. Watson, R.E. Frazier, and P.D. Gill Manual DNA Typing via the Short Tandem Repeats (STRs): KW 426, TH and hTPO 201 R. Poltl, C. Luckenbach, and H. Ritter XI A Multiplex Amplification Approach for Simultaneous Typing of Five Loci in DNA of Ancient Basque Populations ............................... 204 L. Prieto, E. Arroyo, A. Perez-Perez, C. Asperilla. 1. Arenal, J.M. Ru{z de la Cuesta. and D. Turban Triplex PCR of Three STR Loci with N onoverlapping Allele Sizes . . . . . . . . . .. 207 1. Rostedt and M. Lukka Visualization of Epigenetic Toxicological DNA Changes. . . . . . . . . . . . . . . .. 210 T. Sawaguchi, S. Nakamura, X. Wang; and A. Sawaguchi The 3 Hypervariable VNTR Locus APO B: Three Different Analysing Methods Revealing Different Alleles and Large Family Studies. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 213 S. Sedlmayr, R. Poltl, C. Luckenbach, and H. Ritter Automated Fluorescent peR Based Analysis of the STR Polymorphism atLocus D8S639 and at the CYP19 Gene. . . . . . . . . . . . . . . . . . . . . . . . .. 216 C. Seid~ O. Jager, M. Kilp, and E. Seifried Mutations ofD2S44 and D4S139 Alleles and Presence of Two-Fragment Alleles for D4S139 ............................................. 219 A. Vandenberghe, N. Mommers, 1. Peeters, M. Vandenbroeck, and L. Muylle Nonautomatic Multiplex Analysis and Detection of Six STR-Loci: HPRT, FABP2, CD4, F13Al, CYP19 and LPL. . . . . . . . . . . . . . . . . . . . . . .. 223 R. Weispfennig; C. Luckenbach, and H. Ritter DNA Analysis of Polymorphism in Drug or Xenobiotic Metabolism. . . . . . . . .. 226 M. Yamada, M. Sato, 1. Ushiyama, Y. Yamada, A. Nishimura, and K. Nishi Forensic Efficiency and German Population Data for the Tetrameric STR Polymophism DHFRP2 (HUMFOLP23) 229 M. Benecke, C. Schmitt, and M. Prinz 5 Forensic Applications Criminal Intelligence Databases and Interpretation of STRs .............. 235 P. Gill, A.Urquhart, E. Millican, N. Oldroyd, S. Watson, R. Sparkes, and C.P.Kimpton Identification Through Genetic Typing of the Victims of the Sect of the Solar Temple (CheiryISalvan, Switzerland) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 243 C. Brandt-Casadevan N. Dimo-Simonin, and T. Krompecher Design of Novel Oligonucleotide Probes for Sex Determination and Its Forensic Application . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 246 R. Kobayashi, N. Iizuka, and Y. Itoh Casework Experiences with a Multiplex STR System . . . . . . . . . . . . . . . . . .. 249 M. J. Greenhalgh Multiplexed DNA Markers from Cigarette Butts in Forensic Casework 252 F. De Stefano, G. Bruni, 1. Casarino, M.G. Costa. and A. Mannucci XII DNA Polymorphisms in Dental Pulp: Effect of Environmental Factors . . . . . . 255 A. Alvarez Garda, 1. Munoz, C. Pestoni, M. V. Lareu, M. S. Rodriguez-Calvo, F. Barros, and A. Carracedo Identification of Human Remains Using DNA Amplification (PCR) 258 J. Andradas, E. Garcia, T. Camara, 1. Prieto, and J. L6pez The So-Called Alcohol-Blood Sample Identity Expertise ....... . 261 W. Huckenbeck and W. Bonte Application of the STR Androgen Receptor (HUMARA) Polymorphism to Paternity Cases . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 264 1. Caenazzo, E. Ponzano, C. Crestani, G. Bonan, and P. Cortivo Multiplex Genetic Typing of CSFIPO, TPOX, and HUMTHOI in Forensic Samples 266 A. Castro, 1. Fernandez-Fernandez, S. Alonso, A. Garcia-Orad, G. Tamayo, and M.M. de Pancorbo A Five Minute Procedure for Extraction of Genomic DNA from Whole Blood, Semen and Forensic Stains for PCR . . . . . . . . . . . . . . . . . . . . . . . . . . 269 J. Dissing, 1. Rudbeck, and H. Marcher False Results in the HLA-DQa Typing: Two Cases Reported . . . . . . . . . . . 272 P. Fattorini, N. Malusa, A. Junge, F. Cossutta, F. Florian, B.M. Altamura, G. Furlan, and G. Graziosi Forensic Use ofPCR DNA Analysis in Hairs, Envelopes, and Cigarette Ends. . . . 275 R. Fernandez, E. Ramirez, M. Crespillo, J.A. Luque, P. Garcia, and J.L. Valverde PCR-DNA Typing from Beard Samples. . . . . . . . . . . . . . . . . . . . . 278 1. Garofano, G. Lago, C. Zanon, M. Bruno, P. Carresi, G. Zignale, S. Gino, and C. Torre PCR-Based Analyses of Epidermal Cells Found on Adhesive Tape .... 281 1. Garofano, G.Lago, C. Zanon, A. Virgili, G. D'Errico, G. Vespi, S. Gino, and C. Torre Determination of Sex in Dental Pulp Using PCR ............. . 284 A. Gremo, M.A. Martinez, J. Sanchez, and C. Landete Use ofPCR in Forensic Casework in the Area of Berlin-Brandenburg: Allele Frequency Distribution of Six Microsatellites .. . . . . . . . . . 287 G. Bliifl, B. Jauert, W. Oesterreich, E. Ackermann, A. Pieper, and S. Herrmann The Never Ending Story: A New Tsarevitch? . . . . . . . . . . . . . . . . . 290 W. Huckenbeck, W. Bonte, V. Hees, S. West, and K. W. Alt Influence of Mediaeval Clothes Colour Pigments on DNA Extraction and Amplification . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 292 C. Keyser, D. Montagnon, B. Ludes, E. Crubezy, D. Cardon, P. Walton Rogers, J. Wouters, and P. Mangin Forensic Investigations After Sexual Abuse of Several Infants: A Criminal Case Report . . . . . . . . . . . . . . . . . . . 295 J. Kreike, A. Lehner, E. Friedrich, and o. Tauscher Sex Determination on Ancient Bones . . . . . . . . . 298 K. Kuntze, W. Huckenbeck, W. Bonte, and K. W. Alt