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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
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CRC Press
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Taylor & Francis Group
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First published 1994 by BIOS Scientific Publishers Limited
Second edition 1998
Published 2019 by CRC Press
Taylor & Francis Group
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© 1998 by Taylor & Francis Group, LLC
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No claim to original U.S. Government works
ISBN 13: 978-1-85996-062-2 (pbk)
ISBN 13: 978-1-872748-43-6 (hbk)
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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
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