DNA fingerprinting PDF
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DNA Fingerprin·tin g Jc -: : :c : Second Edition THE MEDICAL PERSPECTIVES SERIES Advisors: B. David Hames School of Biochemistry and Molecular Biology, University of Leeds, UK. David R. Harper Department of Virology, Medical College of St Bartholomew's Hospital, London, UK. Andrew P. Read Department of Medical Genetics, University of Manchester, Manchester, UK. Oncogenes and Tumor Suppressor Genes Cytokines The Human Genome Autoimmunity Genetic Engineering Asthma HIV and AIDS Human Vaccines and Vaccination Antibody Therapy Antimicrobial Drug Action Molecular Biology of Cancer Antiviral Therapy Molecular Virology Second Edition DNA Fingerprinting Second Edition Forthcoming titles: Understanding Gene Therapy Nucleic Acid-based Diagnosis DNA Fingerprinting Second Edition M. Krawczalf and J. Schmidtki alnstitute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, UK and blnstitut für Humangenetik, Medizinische Hochschule, 30623 Hannover, Germany 0 CRC Press c;1t! Taylor & Francis Group BBooccaa RRaattoonn LLoonnddoonn NNeeww YYoorrkk CCRRCC PPrreessss iiss aann iimmpprriinntt oofl tthhee TTaayylloorr && FFrraanncciiss GGrroouupp,, aann iinnfloorrmmaa bbuussiinneessss First published 1994 by BIOS Scientific Publishers Limited Second edition 1998 Published 2019 by CRC Press Taylor & Francis Group 6000 Broken Sound Parkway NW, Suite 300 Boca Raton, FL 33487-2742 © 1998 by Taylor & Francis Group, LLC CRC Press is an imprint of Taylor & Francis Group, an Informa business No claim to original U.S. Government works ISBN 13: 978-1-85996-062-2 (pbk) ISBN 13: 978-1-872748-43-6 (hbk) This book contains information obtained from authentic and highly regarded sources. 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Contents Abbreviations vii Preface ix 1 The genetic background 1 Genetic diversity and its substrate 1 The basics of molecular genetics 3 The molecular organization of the human genome 12 References 16 Further reading 16 2 Studying DNA polymorphism 17 The analytical tools 17 The characterization of DNA polymorphism 27 Applications in human genome research and clinical medicine 36 References 40 Further reading 42 3 Origin and maintenance of DNA polymorphism 43 The principles of molecular evolution 43 Mutational mechanisms contributing to genetic diversity 50 Meiotic mutation of repetitive DNA 59 Mitotic mutation of repetitive DNA 61 References 63 Further reading 64 4 DNA typing to identify suspects 65 Population genetic aspects of DNA profiling 65 Quantifying the evidence 70 References 82 Further reading 82 v vi Contents 5 DNA typing to establish relationships 83 Kinship testing 83 Multilocus DNA fingerprinting 86 References 92 Further reading 92 6 Further development - technical and ethical issues 93 Technical improvements 93 Legal and ethical considerations 95 References 99 Appendix A: Glossary 101 Index 107 Abbreviations A adenine AmpFLP amplification fragment length polymorphism AP-PCR arbitrarily primed PCR ASO allele-specific oligonucleotide c cytosine eDNA complementary DNA eM centi-Morgan COD IS combined DNA identification system dATP deoxyadenosine 5' -triphosphate dCTP deoxycytidine 5' -triphosphate dGTP deoxyguanosine 5' -triphosphate DNA deoxyribonucleic acid 2D-DNA typing two-dimensional DNA typing dTTP deoxythymidine 5'-triphosphate EST expressed sequence tag G guanine HD Huntington disease HLA human leukocyte antigen HNPCC hereditary nonpolyposis colorectal cancer LINE long interspersed nuclear element 5mC 5-methylcytosine mRNA messenger RNA MVR minisatellite variant repeat NRC National Research Council nt nucleotide ORF open reading frame PCR polymerase chain reaction PIC polymorphism information content RAPD random amplified polymorphic DNA RFLP restriction fragment length polymorphism RNA ribonucleic acid RSP restriction site polymorphism SD standard deviation SINE short interspersed nuclear element SNP single nucleotide polymorphism vii viii Abbreviations SP-PCR small pool PCR SSM single step mutation STR short tandem repeats T thymine u uracil VDA variant detection array VNTR variable number of tandem repeats Preface Over the last 15 years, molecular genetics has evolved at a remarkable pace. Today, the genotypes of single cells can be determined at the level of the DNA, and even minute or degraded biological samples, useless for molecular analyses only a decade ago, have become amenable to accurate testing by means of sophisticated laboratory methods. This development has had an enormous practical impact on various scientific disciplines - from forensic medicine via parasitology to social biology - which aim to identify organisms or individuals on the basis of the material traces that they leave behind. A major step forward in genetic identification was the realization that the repetitive sequence compartments of the genomes of virtually all species are highly polymorphic. These regions contain genetic loci com prising up to several hundred alleles, differing from each other with respect to length, sequence or both. When such polymorphisms are made visible, the emerging patterns in combination make up a unique feature of the analyzed individual, its 'DNA fingerprint'. This book aims to provide an overview of DNA fingerprinting. We tried to pay equal attention to the molecular genetic basis of DNA poly morphism, its technical exploitation, and the statistical and ethical prob lems arising from its recruitment in medical and forensic practice. In a book such as this, it is of course impossible to provide a fully compre hensive review of a fast moving field of science. We therefore confined ourselves to describing the basics underlying DNA fingerprinting, illustrated by representative examples where appropriate, rather than compiling the immense body of information currently available on this topic. The book is thus primarily concerned with DNA fingerprinting and DNA profiling in the context of forensic medicine and kinship testing. We wish to thank everybody who has helped us in writing and improving this book. Special thanks are due to Ingolf Bohm, Jorg T. Epplen, Peter Niirnberg and David Hames for expert comments on the manuscript and proofs, the series advisors and BIOS for their continuing support and cooperation, and to Regina Krawczak and Bettina Pape for supreme patience and forbearance. M. Krawczak J. Schmidtke ix
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