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Chapter 15 Reference Guide on Dna Identification

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Chapter 15 Reference Guide on Dna Identification Reference Manual on Scientific Evidence (Third Edition) Chapter 15 CHAPTER 15 REFERENCE GUIDE ON DNA IDENTIFICATION EVIDENCE DAVID H. KAYE AND GEORGE SENSABAUGH David H. Kaye, M.A., J.D., is Distinguished Professor of Law, Weiss Family Scholar, and Graduate Faculty Member, Forensic Science Program, Eberly College of Science, Penn State University, University Park, Pennsylvania, and Regents’ Professor Emeritus, Arizona State University Sandra Day O’Connor College of Law and School of Life Sciences, Tempe. George Sensabaugh, D. Crim., is Professor of Biomedical and Forensic Sciences, School of Public Health, University of California, Berkeley. © 2009 D.H. Kaye and G. Sensabaugh. This chapter of the third edition of the Federal Judicial Center Reference Manual on Scientific Evidence was submitted to the National Academy of Sciences in 2009 and revised in response to comments from NAS reviewers in October 2010. Contents I. INTRODUCTION......................................................................................................................2 A. SUMMARY OF CONTENTS ........................................................................................................3 B. A BRIEF HISTORY OF DNA EVIDENCE ....................................................................................4 C. RELEVANT EXPERTISE ............................................................................................................6 II. VARIATION IN HUMAN DNA AND ITS DETECTION....................................................8 A. WHAT ARE DNA, CHROMOSOMES , AND GENES ?...................................................................8 B. WHAT ARE DNA POLYMORPHISMS AND HOW ARE THEY DETECTED ? ...............................12 C. HOW IS DNA EXTRACTED AND AMPLIFIED ?........................................................................16 D. HOW IS STR PROFILING DONE WITH CAPILLARY ELECTROPHORESIS ?................................17 E. WHAT CAN BE DONE TO VALIDATE A GENETIC SYSTEM FOR IDENTIFICATION ?.................21 F. WHAT NEW TECHNOLOGIES MIGHT EMERGE ? .....................................................................22 1. Miniaturized “Lab-on-a-Chip” Devices ...........................................................................22 2. High-Throughput Sequencing ...........................................................................................23 3. Microarrays.......................................................................................................................24 4. What Questions Do the New Technologies Raise? ...........................................................24 III. SAMPLE COLLECTION AND LABORATORY PERFORMANCE.............................25 A. SAMPLE COLLECTION , PRESERVATION , AND CONTAMINATION ...........................................25 1. Did the Sample Contain Enough DNA?............................................................................25 2. Was the Sample of Sufficient Quality? ..............................................................................26 B. LABORATORY PERFORMANCE ...............................................................................................28 1. What Forms of Quality Control and Assurance Should Be Followed?.............................28 2. How Should Samples Be Handled?...................................................................................31 IV. INFERENCE, STATISTICS, AND POPULATION GENETICS IN HUMAN NUCLEAR DNA TESTING......................................................................................................................................33 Chapter 15 A. WHAT CONSTITUTES A MATCH OR AN EXCLUSION ?............................................................34 B. WHAT HYPOTHESES CAN BE FORMULATED ABOUT THE SOURCE ? .....................................35 C. CAN THE MATCH BE ATTRIBUTED TO LABORATORY ERROR ?.............................................36 D. COULD A CLOSE RELATIVE BE THE SOURCE ? ......................................................................38 E. COULD AN UNRELATED PERSON BE THE SOURCE ?..............................................................38 1. Estimating Allele Frequencies from Samples....................................................................39 2. The Product Rule for a Randomly Mating Population......................................................40 3. The Product Rule for a Structured Population .................................................................41 F. PROBABILITIES , PROBATIVE VALUE , AND PREJUDICE ..........................................................42 1. Frequencies and Match Probabilities ...............................................................................43 2. Likelihood Ratios...............................................................................................................47 3. Posterior Probabilities......................................................................................................49 G. VERBAL EXPRESSIONS OF PROBATIVE VALUE .....................................................................50 V. SPECIAL ISSUES IN HUMAN DNA TESTING ................................................................52 A. MITOCHONDRIAL DNA.........................................................................................................52 B. Y CHROMOSOMES .................................................................................................................57 C. MIXTURES .............................................................................................................................59 D. OFFENDER AND SUSPECT DATABASE SEARCHES .................................................................63 1. Which Statistics Express the Probative Value of a Match to a Defendant Located by Searching a DNA Database?.....................................................................................................................63 2. Near-Miss (Familial) Searching .......................................................................................66 3. All-Pairs Matching Within a Database to Verify Estimated Random-Match Probabilities68 VI. NONHUMAN DNA TESTING ............................................................................................70 A. SPECIES AND SUBSPECIES .....................................................................................................70 B. INDIVIDUAL ORGANISMS ......................................................................................................72 REFERENCES ON DNA............................................................................................................77 GLOSSARY..................................................................................................................................78 I. Introduction Deoxyribonucleic acid, or DNA, is a molecule that encodes the genetic information in all living organisms. Its chemical structure was elucidated in 1954. More than 30 years later, samples of human DNA began to be used in the criminal justice system, primarily in cases of rape or murder. The evidence has been the subject of extensive scrutiny by lawyers, judges, and the scientific community. It is now admissible in all jurisdictions, but there are many types of forensic DNA analysis, and still more are being developed. Questions of admissibility arise as advancing methods of analysis and novel applications of established methods are introduced. This reference guide addresses technical issues that are important when considering the admissibility of and weight to be accorded analyses of DNA, and it identifies legal issues whose resolution requires scientific information. The goal is to present the essential background 15-2 Chapter 15 information and to provide a framework for resolving the possible disagreements among scientists or technicians who testify about the results and import of forensic DNA comparisons. A. Summary of Contents Part I provides a short history of DNA evidence and outlines the types of scientific expertise that go into the analysis of DNA samples. Part II provides an overview of the scientific principles behind DNA typing. It describes the structure of DNA and how this molecule differs from person to person. These are basic facts of molecular biology. The section also defines the more important scientific terms and explains at a general level how DNA differences are detected. These are matters of analytical chemistry and laboratory procedure. Finally, the section indicates how it is shown that these differences permit individuals to be identified. This is accomplished with the methods of probability and statistics. Part III considers issues of sample quantity and quality as well as laboratory performance. It outlines the types of information that a laboratory should produce to establish that it can analyze DNA reliably and that it has adhered to established laboratory protocols. Part IV examines issues in the interpretation of laboratory results. To assist the courts in understanding the extent to which the results incriminate the defendant, it enumerates the hypotheses that need to be considered before concluding that the defendant is the source of the crime scene samples, and it explores the issues that arise in judging the strength of the evidence. It focuses on questions of statistics, probability, and population genetics. Part V describes special issues in human DNA testing for identification. These include the detection and interpretation of mixtures, Y-STR testing, mitochondrial DNA testing,
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