Butler Forensic DNA Typing

Biology, Technology, and Genetics of STR Markers
2. Auflage 2005
ISBN: 978-0-08-047061-0
Verlag: Elsevier Science & Techn.
Format: PDF
Kopierschutz: 1 - PDF Watermark

E-Book, Englisch, 688 Seiten, Web PDF

Forensic DNA Typing, Second Edition, is the only book available that specifically covers detailed information on mitochondrial DNA and the Y chromosome. It examines the science of current forensic DNA typing methods by focusing on the biology, technology, and genetic interpretation of short tandem repeat (STR) markers, which encompass the most common forensic DNA analysis methods used today. The book covers topics from introductory level right up to cutting edge research. High-profile cases are addressed throughout the text, near the sections dealing with the science or issues behind these cases. Ten new chapters have been added to accommodate the explosion of new information since the turn of the century. These additional chapters cover statistical genetic analysis of DNA data, an emerging field of interest to DNA research. Several chapters on statistical analysis of short tandem repeat (STR) typing data have been contributed by Dr. George Carmody, a well-respected professor in forensic genetics. Specific examples make the concepts of population genetics more understandable. This book will be of interest to researchers and practitioners in forensic DNA analysis, forensic scientists, population geneticists, military and private and public forensic laboratories (for identifying individuals through remains), and students of forensic science.*The only book available that specifically covers detailed information on mitochondrial DNA and the Y chromosome
*Chapters cover the topic from introductory level right up to 'cutting edge' research
*High-profile cases are addressed throughout the book, near the sections dealing with the science or issues behind these cases
*NEW TO THIS EDITION: D.N.A. Boxes--boxed 'Data, Notes & Applications' sections throughout the book offer higher levels of detail on specific questions

John M. Butler is a NIST Fellow and Special Assistant to the Director for Forensic Science, Office of Special Programs, at the U.S. National Institute of Standards and Technology, in Gaithersburg, Maryland. Dr. Butler earned his PhD from the University of Virginia while doing DNA research in the FBI Laboratory's Forensic Science Research Unit. He has won numerous scientific awards, including being named Science Watch's #1 world-wide high-impact author in legal medicine and forensic science over the last decade (July 2011). He has over 150 publications in this field and is a frequent presenter on the topic of DNA typing, and has authored four other DNA Typing books including Advanced Topics in Forensic DNA Typing: Methodology. For a detailed CV, visit http://www.cstl.nist.gov/strbase/butler.htm.

Autoren/Hrsg.

Butler, John M.

Inhaltsverzeichnis

1;Cover;1
2;CONTENTS;6
3;FOREWORD;8
4;INTRODUCTION;10
4.1;NEW MATERIAL IN THIS SECOND EDITION;11
4.2;AN OVERVIEW OF THE BOOK CHAPTERS;12
5;ACKNOWLEDGMENTS;16
6;ABOUT THE AUTHOR;17
7;1. OVERVIEW AND HISTORY OF DNA TYPING;20
7.1;HISTORY OF FORENSIC DNA ANALYSIS;21
7.2;STEPS IN DNA SAMPLE PROCESSING;25
7.3;COMPARISONS TO COMPUTER TECHNOLOGY;29
8;BIOLOGY;34
8.1;2. DNA BIOLOGY REVIEW;36
8.1.1;BASIC DNA PRINCIPLES;36
8.1.2;POPULATION VARIATION;45
8.1.3;ADDITIONAL READING;50
8.2;3. SAMPLE COLLECTION, DNA EXTRACTION AND DNA QUANTITATION;52
8.2.1;SAMPLE COLLECTION;52
8.2.2;PRESUMPTIVE TESTS FOR BLOOD, SEMEN, AND SALIVA;58
8.2.3;DNA EXTRACTION;61
8.2.4;DNA QUANTITATION;69
8.2.5;REFERENCES AND ADDITIONAL READING;75
8.2.6;POLYMERASE CHAIN REACTION ( PCR) PROCESS;82
8.3;4. THE POLYMERASE CHAIN REACTION (DNA AMPLIFICATION);82
8.3.1;MULTIPLEX PCR;92
8.3.2;REAL- TIME ( QUANTITATIVE) PCR;94
8.3.3;PRECAUTIONS AGAINST CONTAMINATION;98
8.3.4;ADVANTAGES AND DISADVANTAGES OF PCR WITH FORENSIC SPECIMENS;99
8.3.5;REFERENCES AND ADDITIONAL READING;100
8.3.6;REPEATED DNA;104
8.4;5. COMMONLY USED SHORT TANDEM REPEAT MARKERS AND COMMERCIAL KITS;104
8.4.1;CHOICE OF MARKERS USED BY THE FORENSIC DNA;112
8.4.2;TYPING COMMUNITY;112
8.4.3;COMMERCIALLY AVAILABLE STR KITS;116
8.4.4;DETAILS ON ALLELES PRESENT IN THE 13 CODIS STR LOCI;125
8.4.5;GENDER IDENTIFICATION WITH AMELOGENIN;132
8.4.6;STRBASE: A DYNAMIC SOURCE OF INFORMATION ON STR MARKERS;134
8.4.7;REFERENCES AND ADDITIONAL READING;136
8.4.8;STUTTER PRODUCTS;142
8.5;6. BIOLOGY OF STRs: STUTTER PRODUCTS, NON-TEMPLATE ADDITION, MICROVARIANTS, NULL ALLELES AND MUTATION RATES;142
8.5.1;NON- TEMPLATE ADDITION;146
8.5.2;MICROVARIANTS AND 'OFF- LADDER' ALLELES;148
8.5.3;ALLELE DROPOUT AND NULL ALLELES;152
8.5.4;MUTATIONS AND MUTATION RATES;157
8.5.5;REFERENCES AND ADDITIONAL READING;161
8.5.6;DEGRADED DNA;164
8.6;7. FORENSIC ISSUES: DEGRADED DNA, PCR INHIBITION, CONTAMINATION, MIXED SAMPLES AND LOW COPY NUMBER ;164
8.6.1;PCR INHIBITION;169
8.6.2;CONTAMINATION ISSUES;171
8.6.3;MIXTURES;173
8.6.4;LOW- COPY NUMBER DNA TESTING;186
8.6.5;OTHER USES FOR STR TYPING;189
8.6.6;REFERENCES AND ADDITIONAL READING;193
8.6.7;ROLE OF ADDITIONAL GENETIC MARKERS IN FORENSIC SCIENCE;200
8.7;8. SINGLE NUCLEOTIDE POLYMORPHISMS AND OTHER BI-ALLELIC MARKERS ;200
8.7.1;BASICS OF SINGLE NUCLEOTIDE POLYMORPHISMS (SNPs);201
8.7.2;SNP TYPING ASSAYS AND TECHNOLOGIES;203
8.7.3;POTENTIAL APPLICATIONS FOR SNPs IN HUMAN IDENTITY TESTING;207
8.7.4;OTHER BI- ALLELIC MARKERS;211
8.7.5;POINTS FOR DISCUSSION;213
8.7.6;REFERENCES AND ADDITIONAL READING;213
8.8;9. Y CHROMOSOME DNA TESTING;220
8.8.1;LINEAGE MARKERS;220
8.8.2;VALUE OF Y CHROMOSOME ANALYSIS IN HUMAN IDENTITY TESTING;220
8.8.3;Y CHROMOSOME STRUCTURE;223
8.8.4;Y- STR MARKERS;225
8.8.5;ISSUES WITH USE OF Y- STRs IN FORENSIC CASEWORK;239
8.8.6;Y- SNP AND BI- ALLELIC MARKERS;241
8.8.7;HISTORICAL AND GENEALOGICAL STUDIES WITH THE Y CHROMOSOME;242
8.8.8;THE THOMAS JEFFERSON- SALLY HEMINGS AFFAIR;243
8.8.9;SURNAME TESTING AND GENETIC GENEALOGY;249
8.8.10;POINTS FOR DISCUSSION;251
8.8.11;REFERENCES AND ADDITIONAL READING;251
8.9;10. MITOCHONDRIAL DNA ANALYSIS;260
8.9.1;CHARACTERISTICS OF MITOCHONDRIAL DNA;260
8.9.2;MITOCHONDRIAL DNA SEQUENCING IN FORENSIC CASEWORK;274
8.9.3;INTERPRETING AND REPORTING mtDNA RESULTS;285
8.9.4;LABORATORIES PERFORMING mtDNA TESTING IN THE UNITED STATES;291
8.9.5;ISSUES IMPACTING INTERPRETATION;292
8.9.6;SCREENING ASSAYS FOR mtDNA TYPING;297
8.9.7;POPULATION DATABASES;300
8.9.8;FUTURE DIRECTIONS IN mtDNA RESEARCH;303
8.9.9;REFERENCES AND ADDITIONAL READING;307
8.10;11. NON-HUMAN DNA TESTING AND MICROBIAL FORENSICS;318
8.10.1;DOMESTIC ANIMAL DNA TESTING;318
8.10.2;PLANT DNA;322
8.10.3;MICROBIAL FORENSICS;324
8.10.4;REFERENCES AND ADDITIONAL READING;325
9;TECHNOLOGY;330
9.1;INTRODUCTION;332
9.2;12. DNA SEPARATION METHODS: SLAB GEL AND CAPILLARY ELECTROPHORESIS;332
9.2.1;SLAB GELS;333
9.2.2;CAPILLARY ELECTROPHORESIS;337
9.2.3;DNA SEPARATION MECHANISMS;340
9.2.4;ADDITIONAL COMMENTS ON ELECTROPHETIC SEPARATIONS;341
9.2.5;ADDITIONAL READING;342
9.3;13. DNA DETECTION METHODS: FLUORESCENT DYES AND SILVER-STAINING ;344
9.3.1;VARIOUS METHODS FOR DETECTING DNA MOLECULES;344
9.3.2;FLUORESCENCE DETECTION;344
9.3.3;SILVER STAINING;359
9.3.4;REFERENCES AND ADDITIONAL READING;361
9.4;14. INSTRUMENTATION FOR STR TYPING: ABI 310, ABI 3100, FMBIO SYSTEMS ;364
9.4.1;THE ABI PRISM 310 GENETIC ANALYZER;364
9.4.2;COMPONENTS OF THE ABI 310;366
9.4.3;OPERATION OF THE ABI 310 FOR GENOTYPING STR SAMPLES;369
9.4.4;STEPS PERFORMED BY THE STANDARD MODULE;375
9.4.5;ALTERNATIVE SOLUTIONS FOR HIGHER THROUGHPUT CAPABILITIES;376
9.4.6;HITACHI FMBIO II AND FMBIO III FLUORESCENCE IMAGING SYSTEMS;380
9.4.7;SAMPLE PROCESSING ON THE FMBIO II;383
9.4.8;ISSUES WITH THE FMBIO II APPROACH;386
9.4.9;REFERENCES AND ADDITIONAL READING;389
9.5;15. STR GENOTYPING ISSUES;392
9.5.1;THE GENOTYPING PROCESS;392
9.5.2;FACTORS AFFECTING GENOTYPING RESULTS;397
9.5.3;EXTRA PEAKS OBSERVED IN THE DATA;401
9.5.4;REFERENCES AND ADDITIONAL READING;405
9.6;16. LABORATORY VALIDATION;408
9.6.1;INTRODUCTION;408
9.6.2;ORGANIZATIONS INVOLVED IN ENSURING QUALITY AND UNIFORMITY OF DNA TESTING;413
9.6.3;VALIDATION;417
9.6.4;INTER- LABORATORY TESTS;423
9.6.5;DNA STANDARD REFERENCE MATERIALS;425
9.6.6;QUALITY CONTROL FOR COMMERCIAL SOURCES OF MATERIALS;427
9.6.7;REFERENCES AND ADDITIONAL READING;427
9.7;17. NEW TECHNOLOGIES, AUTOMATION, AND EXPERT SYSTEMS;432
9.7.1;NEW DNA SEPARATION/ GENOTYPING TECHNOLOGIES;432
9.7.2;LABORATORY AUTOMATION;441
9.7.3;EXPERT SYSTEMS FOR STR DATA INTERPRETATION;443
9.7.4;UNIQUE CHALLENGES WITH FORENSIC DNA AND NEW TECHNOLOGIES;448
9.7.5;REFERENCES AND ADDITIONAL READING;449
9.8;18. COMBINED DNA INDEX SYSTEM (CODIS) AND THE USE OF DNA DATABASES ;454
9.8.1;COMBINED DNA INDEX SYSTEM ( CODIS);457
9.8.2;IMPORTANT ISSUES FOR DNA DATABASES;462
9.8.3;DNA DATABASE LAWS;466
9.8.4;NATIONAL DNA DATABASES AROUND THE WORLD;467
9.8.5;REFERENCES AND ADDITIONAL READING;469
10;GENETICS;472
10.1;19. BASIC GENETIC PRINCIPLES, STATISTICS, AND PROBABILITY ;474
10.1.1;PROBABILITY;476
10.1.2;STATISTICS;479
10.1.3;PRINCIPLES OF POPULATION GENETICS;484
10.1.4;REFERENCES AND ADDITIONAL READING;489
10.2;20. STR POPULATION DATABASE ANALYSES ;492
10.2.1;GENERATING A POPULATION DNA DATABASE;493
10.2.2;STATISTICAL TESTS ON DNA DATABASES;499
10.2.3;PRACTICAL CONSIDERATIONS;508
10.2.4;POINTS FOR DISCUSSION;513
10.2.5;REFERENCES AND ADDITIONAL READING;513
10.3;21. PROFILE FREQUENCY ESTIMATES, LIKELIHOOD RATIOS, AND SOURCE ATTRIBUTION ;516
10.3.1;FREQUENCY ESTIMATE CALCULATIONS;517
10.3.2;LIKELIHOOD RATIO;529
10.3.3;SOURCE ATTRIBUTION;532
10.3.4;OTHER TOPICS OF INTEREST;534
10.3.5;REFERENCES AND ADDITIONAL READING;534
10.4;22. APPROACHES TO STATISTICAL ANALYSIS OF MIXTURES AND DEGRADED DNA ;538
10.4.1;MIXTURE INTERPRETATION;538
10.4.2;PARTIAL DNA PROFILES;545
10.4.3;REFERENCES AND ADDITIONAL READING;546
10.5;23. KINSHIP AND PARENTAGE TESTING ;548
10.5.1;PATERNITY ( PARENTAGE) TESTING;549
10.5.2;REVERSE PARENTAGE TESTING;552
10.5.3;REFERENCES AND ADDITIONAL READING;554
11;BIOLOGY, TECHNOLOGY, AND GENETICS
;558
11.1;24. MASS DISASTER DNA VICTIM IDENTIFICATION ;560
11.1.1;ISSUES FACED DURING DISASTER VICTIM IDENTIFICATION EFFORTS;560
11.1.2;EARLY EFFORTS WITH APPLYING DNA ANALYSIS TO MASS DISASTERS;564
11.1.3;DNA IDENTIFICATION WORK WITH 11 SEPTEMBER 2001 VICTIMS;570
11.1.4;REFERENCES AND ADDITIONAL READING;576
12;APPENDIX I REPORTED STR ALLELES: SIZES AND SEQUENCES
;580
12.1;EXPLANATION OF INFORMATION INCLUDED IN THE FOLLOWING TABLES:;580
12.2;REFERENCES;592
13;APPENDIX II U.S. POPULATION DATA - STR ALLELE FREQUENCIES
;596
14;APPENDIX III SUPPLIERS OF DNA ANALYSIS EQUIPMENT, PRODUCTS, OR SERVICES
;604
15;APPENDIX IV DNA ADVISORY BOARD QUALITY ASSURANCE STANDARDS ;612
15.1;DNA ADVISORY BOARD - QUALITY ASSURANCE STANDARDS FOR FORENSIC
DNA TESTING LABORATORIES FOR CONVICTED
OFFENDER DNA DATABASING LABORATORIES
;612
15.2;QUALITY ASSURANCE STANDARDS FOR FORENSIC DNA TESTING LABORATORIES;613
16;APPENDIX V DAB RECOMMENDATIONS ON STATISTICS;632
16.1;DNA ADVISORY BOARD;632
16.2;CONCLUSION;640
16.3;REFERENCES;640
17;APPENDIX VI NRC II RECOMMENDATIONS;642
17.1;RECOMMENDATIONS TO IMPROVE LABORATORY PERFORMANCE;642
17.2;RECOMMENDATIONS FOR ESTIMATING RANDOM- MATCH PROBABILITIES
;642
17.3;RECOMMENDATIONS ON INTERPRETING THE RESULTS OF DATABASE SEARCHES, ON BINNING, AND ON ESTABLISHING THE UNIQUENESS OF PROFILES
;644
17.4;RECOMMENDATION FOR RESEARCH ON JUROR COMPREHENSION;644
18;APPENDIX VII EXAMPLE DNA CASES;646
18.1;CASE (A) - SEXUAL ASSAULT EVIDENCE EXAMINED WITH 13 CODIS AUTOSOMAL STR LOCI;646
18.2;CASE (B) USE OF Y CHROMOSOME STR INFORMATION;649
19;AUTHOR INDEX;652
20;SUBJECT INDEX;666