Page 241

Index

A

Accountability and public scrutiny, 11, 49

Adenine, 12, 61, 214

Admissibility of DNA evidence, 3

balancing factors, 174

calculation of profile frequency and, 185

cases and statutes, 205-209

ceiling principles, 188-192

convenience sampling, 188

DQA test, 169 n.8, 174 n.18, 190 n.74, 192

general-acceptance test, 171-172, 173, 175 n.24, 178, 180

helpfulness standard, 173

by jurisdiction, 205-211

laboratory standards and, 41, 185

likelihood ratios, 190, n.74, 200-202

PCR-based profiles, 175, 176 n.27, 177 n.30, 187

product-rule estimates, 187, 191 n.78

proficiency-test statistics, 185

profile frequency data, 185-192

qualitative estimates, 193-195, 200

quantitative estimates, 193

relevance standard, 175 n.24

sound methodology standard, 171, 172-173, 178, 191

standards of proof, 166-167

trends in, 36-37, 41, 73, 174-176

VNTR profiling, 174 n.18, 176-177, 178, 188

African Americans, see Black populations

Alabama, 205, 210

Alaska, 205, 210

Alleles

defined, 14, 15, 63, 65 214

DQA locus, 90

frequencies, 20, 21, 25, 90, 97, 101, 109, 186, 187

interindividual variability, 21, 148-154

interpopulation variability, 5-6, 21, 90

low-frequency (rare), 20-21, 148, 154

notation for, 21, 90

American Board of Criminalistics, 79

American Indian populations, 39, 111, 121, 123, 127, 154, 158, 168 n.6, 191 n.78

American Society of Crime Laboratory Directors/Laboratory Accreditation Board (ASCLD-LAB), 4, 24, 37, 77-78, 79, 85



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Page 241 Index A Accountability and public scrutiny, 11, 49 Adenine, 12, 61, 214 Admissibility of DNA evidence, 3 balancing factors, 174 calculation of profile frequency and, 185 cases and statutes, 205-209 ceiling principles, 188-192 convenience sampling, 188 DQA test, 169 n.8, 174 n.18, 190 n.74, 192 general-acceptance test, 171-172, 173, 175 n.24, 178, 180 helpfulness standard, 173 by jurisdiction, 205-211 laboratory standards and, 41, 185 likelihood ratios, 190, n.74, 200-202 PCR-based profiles, 175, 176 n.27, 177 n.30, 187 product-rule estimates, 187, 191 n.78 proficiency-test statistics, 185 profile frequency data, 185-192 qualitative estimates, 193-195, 200 quantitative estimates, 193 relevance standard, 175 n.24 sound methodology standard, 171, 172-173, 178, 191 standards of proof, 166-167 trends in, 36-37, 41, 73, 174-176 VNTR profiling, 174 n.18, 176-177, 178, 188 African Americans, see Black populations Alabama, 205, 210 Alaska, 205, 210 Alleles defined, 14, 15, 63, 65 214 DQA locus, 90 frequencies, 20, 21, 25, 90, 97, 101, 109, 186, 187 interindividual variability, 21, 148-154 interpopulation variability, 5-6, 21, 90 low-frequency (rare), 20-21, 148, 154 notation for, 21, 90 American Board of Criminalistics, 79 American Indian populations, 39, 111, 121, 123, 127, 154, 158, 168 n.6, 191 n.78 American Society of Crime Laboratory Directors/Laboratory Accreditation Board (ASCLD-LAB), 4, 24, 37, 77-78, 79, 85

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Page 242 Arizona, 191 n.78, 205, 210 Arkansas, 206, 210 B Base pairs, 12-13, 14, 61-62, 65 214 Bayes' theorem, 32-33, 131-133, 164-165, 201 Behavioral research, 8, 42, 199, 203-204 Binning, see VNTR typing Black populations allelic frequencies, 22, 90, 91, 92, 95, 112 databases, 93 n.2, 127 STR diversity, 119 geographic variability, 149-150 HW proportions, 93, 104 likelihood ratios, 115-116 linkage disequilibrium in, 27, 111 origins, 99 Blood groups, M-N, frequencies, 94 C Calculations and equations allele frequency, 148 Bayes' theorem, 32-33, 131-133, 164-165 "birthday problem," 165 conditional probabilities, 114-116 confidence limits for match probabilities, 147, 159-160 conservatism, 111 database searches and, 7, 134-135, 163-165 error rates in, 85-87 exclusion power of a locus, 96 floating bin, 142-143 genotype frequencies, 26 HW expectations, 28, 38, 92, 93 n.2, 148 inadequate database and, 6 inbreeding coefficient, 98-99, 216 issues, 50 likelihood ratio, 128, 163 match probability, 10, 29-30, 32, 39, 45, 46, 52, 111, 114-116, 129-130, 139, 147, 161 measurement standard deviation, 140-141 from population-average allele frequencies, 100, 108 population-structure, 6, 38, 114-116 population subdivision effects, 29-30, 38, 102-104, 114-116, 123-124, 160 product rule, 5, 6, 27, 28, 45, 53, 110, 112, 114, 156, 157, 160 of profile frequencies, 5-6, 28, 122, 163-165 racially mixed databases, 5, 6-7, 38, 99-100, 122, 163-165 recommendations, 5-6, 7, 122, 161 relatives of suspects, 6, 39, 113 2p rule, 5, 29, 38, 45, 104-105, 111, 112, 114, 119-120, 122, 154, 157, 162 uncertainties in, 10, 112 uncertainty windows, 145 uniqueness, 33, 137, 165 VNTR uncertainty windows, 7, 145 Wright's algorithm, 113 Wright's fixation index, 102 California, 206, 210 Cases Ake v Oklahoma, 181-182, 183 n.55 Andrews v State, 174 n.18 Arizona v Youngblood, 184 n.61 Barnes v State, 180 n.41 Blige v State, 206 Brim v State, 189 n.71 Cade v State, 182 n.49 Caldwell v State, 174 n.20 206 California v Trombetta, 184 n.60 Campbell v State Clarke v State, 178 n.32, 208 Cobey v State, 174 n.19, 207 Commonwealth v Beausoleil, 202 n.100 Commonwealth v Crews, 193 n.80, 194 n.83, 198 n.92 201 n.99, 208 Commonwealth v Curnin, 175 n.21, 180 n.41, 196-197 Commonwealth v Gleniewicz, 184 n.62 Commonwealth v Lanigan, 189 n.71, 190 nn.74, 77, 191 n.78, 207 Commonwealth v Pestinikis, 174 n.18 (continued on next page)

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Page 243 (continued from previous page) Daubert v Merrell Dow Pharmaceuticals, 172-173, 185 n.64, 191 n.78 Davidson v State, 180 n.41, 200 n.97, 207 Dubose v State, 182 n.49, 205 Fishback v People, 176 n.26 Flores v State, 208 Franson v Micelli, 190 n.74, 206 Frias v State, 181 n.43 Frye v United States, 171-172, 175, 178 n.31, 180, 185 n.64, 188 n.70, 190 n.73, 194 n.83 Fuller v State, 208 Greenwood v United States, 198 n.92 Harrison v. State, 177 n.31, 181 n.47, 182, 182 n.50, 207 Hayes v State, 190 n.76, 206 Hicks v State, 181 n.46 Hilbish v State, 205 Hopkins v State, 180 207 Husske v Commonwealth, 182 n.49 Kelly v State, 172 n.13, 208 Lindsey v People, 187 n.68, 188 n.69, 189 n.71, 206 Mickens v Commonwealth, 209, 211 Moore v State, 181 n.43 Nelson v State, 206 People v Adams, 172 n.15, 207 People v Adell, 207 People v Amundson, 178 n.32, 179 n.36, 187 n.69 206 People v Antoigue, 193 n.80 People v Axell, 206 People v Barney, 180 n.41, 193 n.80, 199, 206 People v Bell, 181 n.43 People v Castro, 175 n.23, 180 People v Cooper, 184 n.60 People v Davis, 168 n.5 People v Garries, 184 n.60 People v Griffin, 184 n.60, 185 n.63 People v Groves, 178 n.32 People v Hall, 197 People v Heaton, 194 n.83, 198 n.92, 206 People v Lipscomb 206 People v Marlow, 187 n.69, 188 n.71, 189 n.71, 206 People v Morales, 178 n.34, 192 n.79 People v Palumbo, 208 People v Pizarro, 206 People v Simpson, 178 n.35, 196, 199 People v Soho, 187 n.69 206 People v Stremmel, 180 n.41, 206 People v Taylor, 206 People v Vann, 208 People v Venegas, 177 n.29, 188 n.71, 190 nn.75, 77, 195 206 People v Wallace, 175, 190 n.76, 193 n.80, 206 People v Watson, 190 n.74, 206 People v Wesley, 208 People v White, 208 People v Wilds, 187 n.69, 188 n.71, 206 Perry v State, 175 n.23, 180 n.41, 205 Polk v State, 207 Powell v State, 169 n.8 Prater v State, 206 Prince v Superior Court, 181 n.44, 183 n.56 Rivera v State, 193 n.81 Satcher v Commonwealth, 175 n.24 209 Serritt v State, 178 n.32 Smith v Deppish, 201 n.99 Spencer v Commonwealth, 168 n.6, 209 Springfield v State, 194 n.81, 209 State v Alt, 190 n.77, 193 n.81 State v Anderson, 172 n.17, 208 State v Bible, 180 n.41, 186 n.65, 198, 205 State v Bloom, 190 n.75, 194 n.84, 195 n.85, 196, 198, 207 State v Bogan, 167, 193 n.81, 194 n.83, 205 State v Boyd, 196 n.89 State v Brown, 207 State v Buckner, 136, 186 n.65, 194 n.82, 209 State v Carlson, 196 n.89 State v Carter, 169 n.8, 178 n.33, 187 n.68, 188 n.70, 190 n.73, 192 n.79, 193, 207 (continued on next page)

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Page 244 (continued from previous page) State v Cauthron, 180 n.41, 190 n.75, 194 n.82, 209 State v Colbert, 170 n.9 State v Cosey, 184 n.60 State v Davis 207 State v DeSpain, 193 n.81 State v Duran, 191 n.78, 208 State v Dykes, 168 n.6, 207 State v Faraone, 181 nn.44, 45 State v Feldman, 168 n.5 State v Ford, 208 State v Futch, 208 State v Gaddis, 184 State v Gentry, 178 nn.31, 32, 35, 179 n.38, 183 n.52, 209 State v Grayson, 178 nn.31, 33 State v Guevara, 189 State v Haddock 207 State v Harris, 182 n.50, 208 State v Hartman 202 n.100 State v Hill, 178 n.32 State v Hoff, 178 n.32 State v Hollis, 190 n.76, 193 n.80 State v Hummert, 193 n.81, 194 n.82, 205 State v Jackson 200 n.97 State v Jobe, 183 n.52 State v Johnson, 190 n.77, 205 State v Klindt, 200 n.97, 201 State v Lewis, 169 n.8 State v Lyons, 178 n.32, 179 n.39, 208 State v McDaniel, 183 n.56, 184 n.59 State v McFadden, 169 n.8 State v Melvins, 183 n.56 State v Montalbo, 172 n.15, 206 State v Moore, 176 n.26, 178 n.32, 179 n.39, 193 n.81, 207 State v Pennington 208 State v Penton, 178 n.33, 208 State v Peters, 173 n.16, 191 n.78, 209 State v Pierce, 175 n.24, 194 n.83, 208 State v Quatrevingt 207 State v Russell, 177-178 nn.31, 32, 179 nn.36, 39 State v Satterfield 209 State v Schwarz, 168 nn.4, 5, 175 n.22, 180 n.43, 185 n.63, 193 n.81, 196 n.89 State v Schweitzer, 196 n.88, 208 State v Sivri, 190 n.73, 206 state v Skipper, 200 n.97, 202 nn.100, 102 State v Spann, 200 n.97, 202 n.102 State v Springfield, 191 n.78 State v Steele 208 State v Streich, 172 n.17, 176 n.26, 179 n.40, 185 n.64, 190 n.75, 191 nn.77, 78, 208 State v Thomas, 181 n.43, 201 n.99 State v Vandebogart, 180 n.41, 190 nn.74, 77, 207 State v Weeks, 196 n.88, 200 n.97, 207 State v Williams, 178 n.32, 207 State v Wimberly, 208 State v Woodall, 172 n.15 State v Zollo, 194 n.83 Swanson v. State, 169 n.8, 206 Taylor v Commonwealth, 170 n. 1l, 198 n.92 Taylor v State, 187-188 nn.69, 71, 196, 198 n.92, 208 Trimboli v State, 178 n.32 United States v Alvarez, 183 n.53 United States v Bonds, 170, 175 n.24, 176 n.27, 186 n.65, 191 n.78, 205 United States v Butler, 180 n.43 United States v Chischilly, 191 n.78, 196 n.88, 205 United States v Davis, 169 n.8, 205 United States v Fatico, 195 n.86 United States v Jakobetz, 175 n.24, 176 n.27, 186 n.65, 191 n.78, 205 United States v Martinez, 191 n.78, 198 n.92, 205 United States v Nobles, 183 n.53 United States v Perry, 172 n.15, 205 United States v. Porter, 170, 177, 190 nn.74, 77, 206 United Staes v Shue, 168 n.7 United States v Two Bulls, 175 n.23, 180 n.41 (continued on next page)

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Page 245 (continued from previous page) United States v Yee, 168 n.5, 175 n.24 Williams v State, 170 n. 11 Caucasians, see White populations Ceiling principles in court, 36, 188-192 criticisms of, 1, 35, 52-53, 157-158, 190-192 defined, 35, 52, 156-157, 215 interim, 28, 35, 36, 52, 58, 116, 157, 158, 159, 188, 189 n.72, 216 need for, 2, 35-36, 41, 58, 158-159, 162 paternity testing and, 54 population substructure and, 28 and random mating theory, 159, 186 TWGDAM report on, 158 Cellmark Diagnostics (UK), 79, 86, 152, 175 n.21, 189 n.71 Centre d'Etude du Polymorphisme Humain, 93 Chain of custody, 25, 82 Chromosomes crossing over, 14, 15, 27, 64, 65, 215 defined, 12, 60, 215 homologous pairs, 60-61 sex (X and Y), 12, 61, 99 n.6, 218 Collaborative Testing Services, 79 College of American Pathologists, 78, 79 Colorado, 206, 210 Conclusions and recommendations, summarized, 36-42 Conditional probabilities, 29 Confidentiality, 1, 11, 49 Connecticut, 206, 210 Conservatism ceiling principles, 52-53, 156-159, 162, 188-192 defined, 215 degrees of, 55 direct counting procedure, 55-56 effects on probablities, 154-156 for heterozygotes, 28, 38, 122 for homozygotes, 28, 38, 122 in match probabilities, 30, 105, 111, 144 for PCR loci, 29, 119-120, 122 product rule with 2p rule, 111, 114, 154 in profile frequency calculations, 5 for subpopulations, 30, 58, 154-155, 156 2p rule, 5, 29, 38 45, 104-105, 111, 112, 114, 119-120, 122, 154, 157, 162 Conviction rates, 197 n.91 Covariance, allele frequency, 100 Cytosine, 12, 61, 215 D DAB, see DNA Advisory Board Databases availability of, 52 convenience samples, 30, 58, 126, 186, 215 convicted felons, 2, 11, 49, 79-80 departures from HW proportions, 97-98, 104 direct count from, 55, 159-160 DNA fragment sizes, 18 FBI, 34, 108, 109 n.13, 127, 148-149 inadequate, 6, 39, 121 individual variability across, 148-154 laboratory proficiency-testing samples in, 79-80 Lifecodes, 34, 104, 108, 109 match probability differences between, 146-148 non-DNA information in, 11, 49 pooling of profiles from, 155-156 race considerations, 21, 38, 96, 127, 155-156, 163-164 recommendations, 6, 39, 40, 123 regional, 110 reliability, 135-136 representativeness, 33, 125, 186 searching, 32, 133-135 size considerations, 32, 39, 93, 98, 110, 114, 125, 135, 146, 147, 160 sources, 21, 30, 58, 93 n.2, 126-127 suspects initially identified from, 7, 32-33, 39-40, 45, 133-135, 161, 163-165 TWGDAM, 27, 34, 109 n.13, 110, 153-154, 160 VNTR, 119 Defendant's fallacy, 31, 133, 198 Delaware, 206, 210

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Page 246 Digital typing, 73 Diploid, 61 215 Discovery, 41, 167-169, 180 n.43, 183, 184 n.59, 204 Distinction between DNA profiling and other identification evidence, 47-48, 166-167 DNA copying process, 63, 64 defined, 215 hybridization, 62, 67, 71-72 216 ladders, 17, 19, 43, 68, 69 markers. see Genetic markers nongenic regions, 15, 126-127 probes, 16, 18, 41, 42, 53, 67, 71, 130, 162, 174 n.19, 215, 217 structure, 12-13, 61-63 DNA Advisory Board, 4, 24, 37, 54-55, 59, 78, 87, 88 DNA Identification Act of 1994, 24, 37, 54, 78, 79, 87 DNA profiling/analysis basis, 9, 11 benefits, 11, 48, 83 defined, 14, 63, 171 n.12 interpretation of results, 10-11; see Population genetics; Statistical issues judicial notice of, 172 process, 66 sample size requirements, 11 standard-setting, 54 status of, 10 technical improvements in, 53, 59 time and expense, 135 n.5 validity of, 50-51 see also VNTR typing DQA locus/test advantages, 72, 117 alleles, 71-72, 74, 90 court acceptance of, 169 n.8, 174 n.18, 190 n.74, 192 exclusion power, 23, 72, 74, 96 gene diversity, 118 genotype frequencies, 91 method of detection, 74 mixed samples, 130 Dot-blot typing, 129 E Enzymes, see Restriction enzymes Equations, see Calculations and equations Error absolute, 136 analyst bias, 84-85 database representativeness, 33-34 data-recording, 80-82, 109 n.14 defendants' challenges based on, 179-185 evidence contamination, 23, 82-84 issues, 85-87 measurement, 139 in paternity testing, 54 pooling of proficiency test results, 86 prevention in laboratories, 66, 80-85 rates, 4, 85-87, 199 relative, 136, 160-161 resampling same person, 109 n.14 sample mishandling, 80-82 Ethnic group, 57, 58; see also Race/racial group Evidence DNA contamination, 82-84 database inadequacies, 6 defined, 2 juror assessment of, 133 probative value, 56 relatives of suspects, 6, 39 retesting, 81, 87, 88, 180-184 suspect DNA from same population, 29-30, 38, 46, 113-116, 122 Exclusion defined, 51 false, 51, 75, 82 population genetics and, 50 power of a locus, 23, 72, 74, 96-97, 119 Expert witnesses qualifications of, 169-171 court-appointed, 41-42, 170 for indigent defendants, 181-182 testimony of, 42, 49, 51-52, 55, 166-167, 168 n.7, 171-172, 182-183, 197, 198, 201-202

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Page 247 F False matches, 51, 75, 82, 83, 84, 185 False negative, 71, 128, n.3 FBI Automated Fingerprint Information Service, 168 n.5 database, 34, 108, 109 n.13, 127, 148-149 ceiling principle applied by, 189 n.71 DNA Advisory Board, 4, 24, 37, 54-55, 59, 78, 88, 175, 176 n.27, 177 n.30, 187 floating-bin frequency calculations, 144 match window, 176 measurement uncertainty studies, 140 Fingerprints, 56-57, 194 FIS, see Theta FIT, see Theta Fixation index, see Theta Fixed bins, see VNTR typing Floating bins, see VNTR typing Florida, 206, 210 Forensic DNA identification, see DNA profiling; Polymerase chain reaction; VNTR typing FST, see Theta G Galton, Francis, 47, 56-57 Gel electrophoresis, 16, 67, 82 215 General-acceptance standard, 171-173, 178, 180, 190, 192, 193, 196, 208 Genes, 13, 14, 62, 63-64, 215 Genetic markers, 10; see also Locus (loci) defined, 217 departures from random-mating proportions, 28 for initial identification of suspects, 134 linkage disequilibrium, 107-108 PCR, 74; see also DQA locus research needs, 41, 121, 162 STR, 74 validation, 83 VNTR loci, 14-16, 65, 74, 121 Genetic variability, 15 Genetics, fundamentals, 12-14, 60-65; see also Population genetics Genome, 61, 62 216 Genotypes defined, 14, 63 population proportions, 90 relative frequencies of, 15 Georgia, 22, 94, 95, 149-150, 174, 206, 210 GST, see Theta Guanine, 12, 61, 216 H Haploid, 61, 63, 216 Hardy, G. H., 26, 91 Hardy-Weinberg (HW) proportions calculations, 28, 38, 92, 93 n.2, 148 court challenges to, 169 n.8, 174 n.20, 187, 190 n.73 defined, 26, 91-93, 216 departures from, 93 n.2, 97-101, 104-106, 148, 150 in large samples, 93-96 linkage equilibrium distinguished from, 106-107 rare alleles, 148 in subpopulations, 28, 38, 102, 103, 189 Hawaii, 206, 210 Helpfulness standard, 173 Heterozygotes/heterozygosity defined, 14, 63, 216 frequency of, 27 HW calculation, 27, 105 race and, 98 n.5 2p rule, 5, 29, 38, 45, 104-105, 111, 112, 114, 119-120, 122, 154, 157, 162 uncertainties in probabilities, 136 Hispanic populations allele frequencies, 112, 153 databases, 127 HW proportions, 104 likelihood ratios, 115-116 linkage disequilibrium in, 27 origins, 99 STR diversity, 119 Homozygotes/homozygous, 12, 63, 65, 105, 137-138, 216

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Page 248 I Illinois, 22, 94, 95, 206, 210 Immigrants, 121 Inbreeding and kinship, 98-99, 102, 109 n.13, 120, 216; see also Relatives Indiana, 207, 210 Institute of Forensic Genetics (Copenhagen), 152 Introns, 63 Inuits, 11 , 121, 123 International exchange of information, 2, 11, 49 Iowa, 207, 210 J Jury behavioral research on. 8, 42, 199, 203-204 comprehension of testimony, 8, 133, 203-204 instructions to, 182, 197, 198 n.93 prior-odds implementation, 202 sources of prejudice, 197-198 see also Testimony on DNA evidence K Kansas, 207, 210 Karitiana people, 109 n.13 Kentucky State Police Forensic Laboratory, 136 Kinship, 98-99 L Laboratory performance accreditation, 4, 24, 37, 77-78, 79, 85, 88, 180 n.42 and admissibility of DNA evidence, 41, 174-175, 199 analyst certification, 79 audits, 24, 77, 78-80 217 control samples, 82, 83 corrective action plans, 77 documentation requirements, 77, 78, 80, 167-168, 181 n.43 duplicate testing, 4, 23, 25, 37, 81, 83, 87, 88, 180-184 error prevention, 80-85, 87-88, 180 error probability estimates, 24-25, 85-87 improvements in, 53, 78 independent review of analyst results, 81. 85, 88 issues, 49-50 legal challenges by defendants, 179-192 1992 report proposals, 76-77 proficiency testing, 4, 24, 37, 55, 59, 77, 78-80, 86, 88, 180, 185, 214, 217 QC and QA guidelines, 37, 55, 59, 76-78. 79, 80, 81, 84, 85, 87 reagent and equipment monitoring, 80, 82 recommendations, 4, 37, 87-88 standards, 10, 54-55, 59, 142 techniques, 82 see also Error Latin Americans, see Hispanic populations Legal standards and procedures attorney-client and work-product privileges, 183 burden of proof, 183 n.55 defendant's right to discovery, 41, 167-169 laboratory-error challenges, 179-192 PCR-based testing, 177-179 retesting of evidence, 181-184 standard of proof, 54, 166-167 VNTR profiling, 176-177 weight of the evidence, 174, 180 see also Admissibility of DNA evidence; Cases; Testimony on DNA evidence Lifecodes, 34, 104, 108, 109, 168 n.5, 174 n.20, 175 n.23, 188 n.71, 198 n.92 Likelihood ratio, 8, 31, 32, 39-40, 127-133, 139-140, 163, 190 n.74 199-202 Linkage equilibrium defined, 106, 216 departures from, 38, 106, 107-108, 122, 150 HW proportions distinguished from, 106-107 in mixed populations, 107-108 multiple loci and, 38, 106-112 (continued on next page)

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Page 249 (continued from previous page) PCR data, 35 racial group and, 187 random mating and, 27 VNTR data, 108-112 Locus (loci) bin frequencies, 97 conservatisms, 119-120 CSFIR, 118 DIS7, 44, 45, 68, 106, 112, 118, 149, 150 DIS80, 72, 74, 106, 117, 137-138 D2S44, 20, 22, 44, 46, 74, 95, 96, 97, 101, 104, 107-108, 111, 112, 118, 137, 143, 149, 150 D4S139, 44, 45, 112, 118, 149, 150 D7S8, 72, 118 D10S28, 44, 45, 107-108, 112, 118, 149, 150 D17S79, 20, 44, 45, 96, 97, 111, 118 defined, 13, 63, 216 exclusion power, 96-97, 119, 165 F13AI, 118 GC, 72, 118, 119 GYPA, 72, 118 HBGG, 72, 118, 119 HUMTHO1, 74 linkage equilibrium, 106-112 LDLR, 72, 118, 119 LPL, 118 MN blood group, 72, 94, 101 PCR, 23, 117, 118, 119-120, 121 PLA2A, 118 Polymarker, 117, 118-119 STR, 117, 118 THOI, 118 VNTR, 34, 44, 45, 58, 65, 67, 68, 111, 117, 118, 119, 121, 126, 137, 149, 150 see also DQA locus/test Louisiana, 207, 210 M Maryland, 207, 210 Massachusetts, 175 207, 210 Match probability calculations, 10, 29-30, 32, 52, 111, 114-116, 129-130, 134-135 conditional, 113, 133, 164 confidence intervals, 33, 39, 55, 146-148, 159-160, 215 conservatisms in, 105 database searches and 7, 32-33, 39-40, 45, 134-135, 163-165 defendant's falacy, 31, 133 definition, 217 from direct counts of database profiles, 55, 159-160 error rate combined with, 85-87 evidence DNA and suspect from same subpopulation, 38, 46, 114-116, 122 enzyme and, 109 explanations in court, 192-204 floating bins and, 7, 143-144 five-locus, 56, 109, 119, 132, 153, 160 four-locus, 56, 109, 116, 132, 153, 154, 160, 189 n.71 for heterozygotes, 105 laboratory error probability estimates combined with, 24-25 and likelihood ratio, 8, 31, 32, 39-40, 127-133 multilocus, 34, 47, 106-112 parameters, 137 posterior odds, 8, 32, 131 profile frequency and, 25, 89-90, 127 prosecutor's falacy, 31-32, 133 recommendations, 6, 40, 161-162 relatives of suspects/perpetrators, 113 replicate determinations, 140 single-locus, 194 six-locus, 119, 153 three-locus, 108-109, 110, 188 n.71 threshold values, 136 two-locus, 108, 110 uncertainties in, 33 uniqueness and, 10, 136-138 very small, 56, 135-136, 141, 160 windows, 19-20, 40-41, 44, 127 n.3, 140-141, 143, 144, 148, 161, 162, 176 see also Calculations Measurement of DNA fragments, 17, 18, 43, 53, 70, 139-140, 161 Meiosis, 61 217

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Page 250 Michigan, 207, 210 Minisatellite repeat mapping, 73 Minnesota, 175, 181 n.43 207, 210 Mississippi, 207, 210 Missouri, 207, 210 Mitochondrial DNA, 72-73, 74, 117 Mitosis, 60-61 Mixed samples, 129-130, 162-163 M-N blood group, 94, 101 Montana, 207, 210 Mutations, 14, 15, 34, 54, 63, 64, 65, 116 n.16, 119, 121 N National Academy of Sciences, 24; see also NCR report (1992) National Committee on Forensic DNA Typing, 37, 54, 87, 156 National Institute of Standards and Technology, 54, 140 National Institutes of Health, 54 National Institute of Justice, 79-80 Native Americans, see American Indian populations Natural selection, 23, 71, 94, 98, 116 n.16, 119, 121 Nebraska, 188 n.69 207, 210 New Hampshire, 207, 210 New Jersey, 207, 210 New Mexico, 208, 210 New York City, 27, 94 New York State, 208, 210 North Carolina, 208, 211 Notation, allele, 21, 90 NRC report (1992), 1-3, 48, 49, 52, 53, 58, 76-77, 87, 129, 136, 142, 143-144, 156-159, 167, 172, 173, 177, 179, 185, 187, 188, 189-190, 193, 194 Nucleotide sequence, 63 O Ohio, 208, 211 Oklahoma, 181 n.43, 208, 211 Oregon 208, 211 P Paternity index, 131-132, 190 n.74, 200 n.97 Paternity testing, 32, 53-54, 121 n.20, 131-132, 148, 186, 201 PCR, see Polymerase chain reaction Pennsylvania, 208, 211 Polymarker system, 72, 74, 118, 119-120, 154 Polymerase chain reaction (PCR) advantages, 21, 23, 34, 36, 46, 70, 73, 116-117, 120 confirmatory tests, 25 conservatism, 29, 119-120, 122 contamination of samples, 83, 84, 179 court challenges, 175, 176 n.27, 177 n.30, 187 defined, 69, 217 disadvantages, 23, 34, 71, 120-121 discriminatory power, 34, 137-138, 154 legal standards applied to, 177-179 loci, 23, 34, 71-72, 117, 121, 126 n.2, 137-138, 165, 178 methods, 46, 69-73 population genetics and, 29, 34-35, 38, 116-120, 187 profile frequency calculations, 5 n.2, 122 RAPD, 194 n.83 sample handling, 83, 84 sample size, 11, 70, 81, 116 uncertainties, 38, 70, 119, 122 see also DQA locus/test Population genetics allele proportions, 90, 159-160 database inadequacies, 121, 123 and exclusion power of a locus, 51, 96-97 genotype proportions, 90 inbreeding and kinship, 98-99 linkage equilibrium, 106-112 and PCR-based systems, 116-120 population structure and, 28, 104-106 population subgroups and, 99-101 random mating proportions, 5, 26-27, 28, 58, 90-91; see also Hardy-Weinberg proportions; Subpopulations recommendations, 38, 122-123 (continued on next page)

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Page 251 (continued from previous page) relatives of suspects, 113, 123 theory, 102-104 Population structure calculations, 5-6, 38 disagreements about, 187-188 genetics, 104-106 and match probabilities, 10-11, 105-106 and PCR-based tests, 34-35 small, isolated communities, 30, 46, 114, 116, 122 Population subgroups, see Subpopulations Posterior odds, 8, 32, 131, 164, 199-202 Posterior probabilities, 132, 201 Prejudicial effect of evidence, 167, 196-199, 200-201, 207 Prior odds, 131, 201-202 Prior probability, 132, 164 Probabilities, see Conditional probabilities; Match probabilities; Posterior probabilities; Prior probabilities Probative value of evidence, 167, 174, 185, 193, 199-200 Product rule, 5, 6, 27, 28, 35, 38, 39, 45, 110, 112, 156, 175 n.21, 187 Profile frequencies allele frequencies and, 25 calculations, 5, 6-7, 38, 99-100, 122, 160 database inadequacies and, 6, 39, 121 geographic variability, 149-151 grouped frequency distribution, 143 match probability and, 25, 89-90, 127 from population averages, 27 race and, 6-7, 28, 99-100, 151-154, 155-156 relatives of suspects, 39 uncertainties in, 27, 33-34, 39 very rare alleles, 20-21 white population subgroups, 151 see also Ceiling principles Prosecutor's falacy, 31-32, 133, 198 Q Quality assurance, 24, 37, 76, 87, 217; see also Laboratory performance Quality control, 24, 37, 76, 217 R Race/racial group allele differences between, 98, 111-112, 151-154, 156 allele frequencies within, 94-96, 98, 111-112, 150-151, 156, 187 and calculation of profile frequency, 5-6, 28, 122, 163-165 data source errors, 34 definition, 57 DQA genotype frequency, 91 pooled mixture, 154-155 statistical aspects of, 151-154 subgroups, 58, 98, 155-156 Rape cases, 51, 175 n.21, 191 n.78 Recommendations database inadequacies, 6, 39, 123 duplicate tests, 4, 37, 88 interpretation of database searches, 7-8 juror comprehension research, 8, 42, 8, 42, 199, 204 laboratory performance, 4, 37, 87-88 laboratory proficiency tests, 4, 37, 88 marker research, 7-8, 41, 162 match probability calculations, 5-6, 40, 161 nature of, 58-59 1992 report, 48-49, 52, 54, 58, 87, 129-130, 134, 142, 143, 156 profile frequency calculations, 5-6, 38, 122 relatives of suspects, 6, 58-59, 123 subpopulations, 38, 122-123 suspects identified through database searches, 161 VNTR typing, 20, 38 Regulatory oversight, 54-55 Relatives of suspects, 6, 58-59, 113, 123, 195-196 Restriction enzymes defined, 218 Hae III, 66, 95, 101 Pst I, 109 Retesting of DNA evidence, 81, 87, 88, 180-184

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Page 252 Reverse blot, 71 RFLPs, see VNTR typing S Samples contamination, 23, 71, 83-84, 179 controls, 17, 82 degraded, 10, 47, 69, 70, 72, 142, 174 215 duplicate testing, 4, 23, 25, 37, 81, 87, 88 gender testing of, 81 mixed, 31, 84, 129-130, 162-163 mixups and mislabeling, 80-82 size requirements, 11, 70 from skeletal remains, 72 storage, 1, 11, 49, 87, 88 Security, 1, 11, 49 Semen/sperm, DNA from, 5, 12, 84 Short tandem repeats (STRs), 23, 32, 34, 70-71, 73, 117, 118, 119, 121 n.20, 126, 148, 218 Sound-methodology standard, 171-173, 178, 191, 193, 196 South Carolina, 208, 211 South Dakota, 208, 211 Southern blotting, 67 218 Statistical issues alleles with low frequency, 148 Bayes' theorem, 32-33, 131-133 ceiling principles, 41, 156-159, 162 court challenges based on, 175, 176, 178, 185-192 data sources, 30-31, 126-127, 186 database searches, 32-33, 39-40, 45, 133-135, 161 direct count from database, 159-160 fallacies, 31, 133 geographic subdivision, 22, 30, 94-96, 138, 149-151 individual variability, 148-154 measurement of VNTRs, 139-140 mixed samples, 31, 129-130 more conservative formulae, 154-156 in PCR-based tests, 34-35 profile frequencies, 33-34, 50 racial differences, 151-154 recommendations, 160-162 research needs, 162 sample size, 32, 93, 104 subpopulation differences, 30-31, 151, 160 uncertainty in calculations, 11, 27, 33-34 uniqueness, 33, 40, 136-138, 161 very small probabilities, 135-136, 160 in VNTR analysis, 40, 121, 139-145, 161-162 see also Calculations; Match probabilities; Uncertainty Statutes compensation of experts, 182 n.48 retesting of physical evidence, 180 n.43 standards for scientific evidence, 171 n. 12 STRs, see Short tandem repeats Subpopulations admissibility of evidence on, 187-188 allele frequencies, 5-6 differences among, 58, 151 geographic subdivisions, 30, 149-151 HW proportions in, 35, 102, 103 interindividual variability, 118, 151 linkage equilibrium, 35, 105 proportions, 99-101 same for evidence DNA and suspect, 29-30, 38, 46, 113-116, 122 theory, 102-104 see also Race/racial groups Suspects identified by database searches, 32-33, 133-135, 161 relatives of, 6, 113 T Technical Working Group on DNA Analysis Methods (TWGDAM) ceiling principle report, 158 data set, 27, 34, 109 n.13, 110, 160 laboratory QA/QC guidelines, 4, 24, 37, 59, 77, 79, 80, 81, 84, 85, 87, 88 Tennessee, 171 n.12, 208, 211 Testimony on DNA evidence expert, 41-42, 49, 51-52, 55, 166-167, (continued on next page)

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Page 253 (continued from previous page) 168 n.7, 169-171, 181-184, 197, 198, 201-202 frequencies and match probabilities, 195-199 juror comprehension, 8, 42 laboratory error, 201 likelihood ratios and posterior odds, 8, 199-202 quantitative estimates of profile frequency, 192, 193 recommendations, 8, 42 response to, 203-204 uniqueness/infrequency of profiles, 136, 193-195 Texas, 208, 211 Theta (0), 29-30, 102-106, 114-116 Thymine, 12, 61, 218 U Uncertainty allele frequency and, 20-21, 112 database representativeness and, 33, 55, 125 database size and, 27, 93, 125 departures from random mating proportions, 92, 150 individual variability, 112, 148, 150 in match probabilities, 10, 32, 33, 55, 136, 160 measurement of DNA fragments, 18, 19-20, 40, 53, 70, 139-140, 161 in PCR-based systems, 38, 119, 122 in population averages, 108 population structure and, 10-11, 38, 55, 125-126 in profile frequency estimates, 27, 33-34, 39 reduction measures, 21 statistical, 11, 27 in VNTR typing, 18, 44, 121 windows, 19, 44, 140, 145 Uniqueness all profiles considered simultaneously, 137, 165 calculations, 33, 137, 165 defined, 195 demonstration of, 9-10, 137-138, 161 fingerprints and, 56-57 probabilities, 7-8, 40, 136-138 testimony on, 136, 193-195 in tissues, 12 United States population data sources on, 58 HW  proportions in, 104 see also White populations V Variable-number tandem repeats, 14-15, 218; see also VNTR typing Variance, allele-frequency, 100 Vermont, 208, 211 Virginia, 209, 211 VNTR typing advantages, 14, 65 autoradiographs (autorads), 16, 17, 19, 42-43, 53, 67, 68, 85, 139, 185 214 band-shifting, 139, 142, 214 bin frequencies of specific loci, 20, 22, 97, 111 binning, 18, 45, 40-41, 69, 141, 142-144, 148, 161-162, 174 n.20, 176, 188 n.71 200 n.96, 214 case study, 42-45 conservatism in, 28-29 continuous distribution model, 139, 161 controls, 17, 82 database, 119 disadvantages, 18, 35, 36, 53, 73 discriminatory power, 137, 154 fixed bins, 7, 18, 19, 22, 40, 95, 141, 143-144, 161-162, 177 floating bins, 7, 18, 20, 40, 141, 142-143, 148, 161-162, 177 HW calculation, 104-105, 106, 148 inconclusive tests, 139 legal standards applied to, 175 n.22, 176-177, 178, 188 and linkage equilibrium, 108-112 loci required/used, 34, 44, 45, 58, 65, 67, 68, 74, 111, 117, 118, 119, 121, 126, 137, 149, 150, 189 n.71 (continued on next page)

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Page 254 (continued from previous page) matching, 7, 17-18, 19-20, 40-41, 44-45, 84, 139-142, 161-162, 176 measurement errors, 139-140 mixed samples, 129, 130 product rule, 28, 35, 38, 45, 154 profile frequency calculations, 5, 45, 143, 187, 188 rebinning, 148, 177, 217 recommendations, 20, 38, 40-41, 104-105, 122, 148, 161-162 sample handling, 83 statistical aspects, 121, 139-145 subpopulations and, 188-189 technique, 15-17, 42-43, 65-68 2p rule, 5, 29, 38, 45, 104-105, 111, 112, 114, 119-120, 122, 154, 157, 162 uncertainties, 7, 19-21, 40, 44, 119-120, 121, 140, 145, 161 W Wahlund's principle, 100-101 Washington, D.C., 206, 210 Washington State, 209, 211 Weinberg, Wilhelm, 91 West Virginia, 209, 211 White populations allele frequencies, 20, 22, 91, 97, 101, 112, 151, 153 databases, 93 n.2, 127, 160 DIS80 locus, 137-138 D2S44 locus, 137 HW  proportions in, 104 likelihood ratios, 115-116 linkage disequilibrium in, 27, 111 M-N blood group locus, 94, 101 origins, 99, 151 STR diversity, 119 subgroups, 103-104, 151 Wiener, A. S., 94 Wisconsin, 209, 211 Wright, Sewall, 98-99 Wright's algorithm, 113 Wright's fixation index, 102, 123 Wyoming, 209, 211