Familial Identification: Population Structure and Relationship Distinguishability
With the expansion of offender/arrestee DNA profile databases, genetic forensic identification has become commonplace in the United States criminal justice system. Implementation of familial searching has been proposed to extend forensic identification to family members of individuals with profiles in offender/arrestee DNA databases. In familial searching, a partial genetic profile match between a database entrant and a crime scene sample is used to implicate genetic relatives of the database entrant as potential sources of the crime scene sample. In addition to concerns regarding civil liberties, familial searching poses unanswered statistical questions. In this study, we define confidence intervals on estimated likelihood ratios for familial identification. Using these confidence intervals, we consider familial searching in a structured population. We show that relatives and unrelated individuals from population samples with lower gene diversity over the loci considered are less distinguishable. We also consider cases where the most appropriate population sample for individuals considered is unknown. We find that as a less appropriate population sample, and thus allele frequency distribution, is assumed, relatives and unrelated individuals become more difficult to distinguish. In addition, we show that relationship distinguishability increases with the number of markers considered, but decreases for more distant genetic familial relationships. All of these results indicate that caution is warranted in the application of familial searching in structured populations, such as in the United States.
Vyšlo v časopise:
Familial Identification: Population Structure and Relationship Distinguishability. PLoS Genet 8(2): e32767. doi:10.1371/journal.pgen.1002469
Kategorie:
Research Article
prolekare.web.journal.doi_sk:
https://doi.org/10.1371/journal.pgen.1002469
Souhrn
With the expansion of offender/arrestee DNA profile databases, genetic forensic identification has become commonplace in the United States criminal justice system. Implementation of familial searching has been proposed to extend forensic identification to family members of individuals with profiles in offender/arrestee DNA databases. In familial searching, a partial genetic profile match between a database entrant and a crime scene sample is used to implicate genetic relatives of the database entrant as potential sources of the crime scene sample. In addition to concerns regarding civil liberties, familial searching poses unanswered statistical questions. In this study, we define confidence intervals on estimated likelihood ratios for familial identification. Using these confidence intervals, we consider familial searching in a structured population. We show that relatives and unrelated individuals from population samples with lower gene diversity over the loci considered are less distinguishable. We also consider cases where the most appropriate population sample for individuals considered is unknown. We find that as a less appropriate population sample, and thus allele frequency distribution, is assumed, relatives and unrelated individuals become more difficult to distinguish. In addition, we show that relationship distinguishability increases with the number of markers considered, but decreases for more distant genetic familial relationships. All of these results indicate that caution is warranted in the application of familial searching in structured populations, such as in the United States.
Zdroje
1. FBI September 2011 CODIS-NDIS statistics. URL http://www.fbi.gov/about-us/lab/codis/ndis-statistics
2. NaikG 23 February 2008 The gene police. The Wall Street Journal
3. PopeSClaytonTWhitakerJLoweJPuch-SolisR 2009 More for the same? Enhancing the investigative potential of forensic DNA databases. Forensic Science International: Genetic Supplement Series 2 458 459
4. RothsteinMTalbottM 2006 The expanding use of DNA in law enforcement: What role for privacy? The Journal of Law, Medicine, and Ethics 34 153 164
5. HaimesE 2006 Social and ethical issues in the use of familial searching in forensic investigations: Insights from family and kinship studies. The Journal of Law, Medicine, and Ethics 34 263 276
6. GreelyHRiordanDGarrisonNMountainJ 2006 Family ties: The use of DNA offender databases to catch offenders' kin. Journal of Law, Medicine, and Ethics 34 248 262
7. TanseyB 27 April 2008 State widens DNA scanning in cold cases: Near-match a hint offender related to person in database. San Francisco Chronicle
8. WatkinsT 7 July 2010 Police make arrest in L.A.'s ‘Grim Sleeper’ killings. Associated Press
9. MillerG 2010 Familial DNA testing scores a win in serial killer case. Science 329 262
10. MyersSTimkenMPiucciMSimsGGreenwaldM 2011 Searching for first-degree familial relationships in California's offender DNA database: Validation of a likelihood ratio-based approach. Forensic Science International: Genetics 5 493 500
11. US Department of Justice FBI CODIS brochure. URL http://www.fbi.gov/hq/lab/pdf/codisbrochure2.pdf
12. GershawCSchweighardtARourkeLWallaceM 2011 Forensic utilization of familial searches in DNA databases. Forensic Science International: Genetics 5 16 20
13. SantosSBudowleBSmerickJKeysKMorettiT 1997 Portuguese population data on the six short tandem repeat loci: CSF1PO, TPOX, THO1, D3S1358, VWA and FGA. Forensic Science International 83 229 235
14. GutowskiSBudowleBAuerJvan OorschotR 1995 Statistical analysis of an Australian population for the loci gc, HLA-DQA1, D1S80 and HUMTH01. Forensic Science International 76 1 6
15. UrquhartAKimptonCDownesTGillP 1994 Variation in short tandem repeat sequences: A survey of twelve microsatellite loci for use as forensic identification markers. International Journal of Legal Medicine 107 13 20
16. BudowleBPlanzJChakrabortyRCallaghanTEisenbergA 2006 Clarification of statistical issues related to the operation of CODIS. Proceedings of the Promega Seventeenth International Symposium on Human Identification. volume 17 1 20
17. MurphyE 2010 Relative doubt: Familial searches of DNA databases. Michigan Law Review 109 291 349
18. JesudasonSOrtegaMBaruchSLehmanJQuevedoV 2009 California forensic DNA databases: Impacts on communities of color. Technical report, Generations Ahead
19. HallC 12 May 2006 Experts suggest expanding DNA database: Adding relatives could point to suspects, they say. San Francisco Chronicle
20. GoringHOttJ 1997 Relationship estimation in affected sib pair analysis of late-onset diseases. European Journal of Human Genetics 5 69 77
21. BoehnkeMNJC 1997 Accurate inference of relationships in sib-pair linkage studies. American Journal of Human Genetics 61 423 429
22. O'ConnellJWeeksD 1998 Pedcheck: A program for identification of genotype incompatibilities in linkage analysis. American Journal of Human Genetics 63 259 266
23. EhmMWagnerM 1998 A test statistic to detect errors in sib-pair relationships. American Journal of Human Genetics 62 181 188
24. McPeekMSunL 2000 Statistical tests for detection of misspecified relationships by use of genome-screen data. American Journal of Human Genetics 66 1076 1094
25. AbecasisGChernySCooksonWCardonL 2001 Grr: Graphical representation of relationship errors. Bioinformatics 17 742 743
26. SiebertsSWijsmanEThompsonE 2002 Relationship inference from trios of individuals, in the presence of typing error. American Journal of Human Genetics 70 170 180
27. PurcellSBNTodd-BrownKThomasLFerreiraM 2007 PLINK: A tool set for wholegenome association and population-based linkage analyses. American Journal of Human Genetics 81 559 575
28. StevensEHeckenbergGRobersonEBaugherJDowneyT 2011 Inference of relationships in population data using Identity-by-Descent and Identity-by-State. PLoS Genet 7 e1002287 doi:10.1371/journal.pgen.1002287
29. BudowleBMorettiTR 1998 Examples of STR population databases for CODIS and casework. 9th International Symposium on Human Identification 1 64 73
30. NeymanJPearsonE 1933 On the problem of the most efficient tests of statistical hypotheses. Philosophical Transactions of the Royal Society of London Series A, Containing Papers of a Mathematical or Physical Character 231 289 337
31. BieberFBrennerCLazerD 2006 Finding criminals through DNA of their relatives. Science 312 1315 1316
32. NeiM 1973 Analysis of gene diversity in subdivided populations. Proceedings of the National Academy of Sciences of the United States of America 70 3321 3323
33. WeirBCockerhamC 1984 Estimating F-statistics for the analysis of population structure. Evolution 38 1358 1370
34. JakobssonMScholzSScheetPGibbsJVanLiereJ 2008 Genotype, haplotype and copy-number variation in worldwide human populations. Nature 451 998 1003
35. Cavalli-SforzaLMenozziPPiazzaA 1994 The history and geography of human genes Princeton University Press
36. WeirB 2007 The rarity of DNA profiles. The Annals of Applied Statistics 1 358 370
37. BudowleBGiustiAWayeJBaechtelFFourneyR 1991 Fixed-bin analysis for statistical evaluation of continuous distributions of allelic data from VNTR loci, for use in forensic comparisons. American Journal of Human Genetics 48 841 855
38. GreenP 1992 Population genetic issues in DNA fingerprinting. American Journal of Human Genetics 50 441 443
39. BudowleB 1992 Reply to Green. American Journal of Human Genetics 50 443 446
40. WeirB 1992 Population genetics in the forensic DNA debate. Proceedings of the National Academy of Sciences of the United States of America 89 11654 11659
41. OttJ 1992 Strategies for characterizing highly polymorphic markers in human gene mapping. American Journal of Human Genetics 51 283 290
42. KnappMSeuchterSBaurM 1993 The effect of misspecifying allele frequencies in incompletely typed families. Genetic Epidemiology 10 413 418
43. BudowleBSheaBNiezgodaSChakrabortyR 2001 CODIS STR loci data from 41 sample populations. Journal of Forensic Sciences 46 453 489
44. AndersonAWeirB 2007 A maximum likelihood method for estimation of pairwise relatedness in structured populations. Genetics 176 421 440
45. ZhaiXDXueXQMoYNZhaoGSAiHW 2009 False homozygosities at CSF1PO loci revealed by discrepancies between two kits in Chinese population. International Journal of Legal Medicine 124 457 458
46. HeinrichMMüllerMRandSBrinkmannBHohoffC 2004 Allelic drop-out in the STR system ACTB2 (SE33) as a result of mutations in the primer binding region. International Journal of Legal Medicine 118 361 363
47. ForrestSKupferschmidTHendricksonBJudkinsTPetersenD 2004 Two rare novel polymorphisms in the D8S1179 and D13S317 markers and method to mitigate their impact on human identification. Croatian Medical Journal 45 457 460
48. GrgicakCRogersSMautererC 2006 Discovery and identification of new D13S317 primer binding site mutations. Forensic Science International 157 36 39
49. MizunoNKityamaTFujiiKNakaharaHYoshidaK 2008 A D19S433 primer binding site mutation and frequency in Japanese of silent allele it causes. Journal of Forensic Science 53 1068 1073
50. ClaytonTHillSDentonLWatsonSUrquhartA 2004 Primer binding site mutations affecting the typing of STR loci contained within AMPFlSTR RSGM PlusTMkit. Forensic Science International 139 255 259
51. BoutrandLEgyedBFürediSMommersNMertensG 2001 Variations in primer sequences are the origin of allele drop-out at loci D13S317 and CD4. International Journal of Legal Medicine 114 295 297
52. LewisK 2009 Genomic Approaches to Forensic DNA Analysis. Ph.D. thesis, University of Washington
53. PembertonTWangCLiJRosenbergN 2010 Inference of unexpected genetic relatedness among individuals in HapMap Phase III. The American Journal of Human Genetics 87 457 464
54. EpsteinMDurenWBoehnkeM 2000 Improved inference of relationship for pairs of individuals. The American Journal of Human Genetics 67 1219 1231
55. Scientific Working Group on DNA Analysis Methods (SWGDAM) 2009 SWGDAM recommendations to the FBI director on the “Interim plan for the release of information in the event of a ‘partial match’ at NDIS”. Forensic Science Communications 11 1 12
56. VisscherPHillW 2009 The limits of individual identification from sample allele frequencies: Theory and statistical analysis. PLoS Genet 5 e1000628 doi:10.1371/journal.pgen.1000628
57. BrowningBBrowningS 2011 A fast, powerful method for detecting identity by descent. The American Journal of Human Genetics 88 173 182
58. MoltkeIAlbrechtsenAHansenTNielsenFNielsenR 2011 A method for detecting IBD regions simultaneously in multiple individuals – with applications to disease genetics. Genome Research 21 1168 1180
59. RosenbergNPritchardJWeberJCannHKiddK 2002 Genetic structure of human populations. Science 298 2381 2385
60. RosenbergNMahajanSRamachandranSZhaoCPritchardJ 2005 Clines, clusters, and the effect of study design on the inference of human population structure. PLoS Genet 1 e70 doi:10.1371/journal.pgen.0010070
61. DeGiorgioMJakobssonMRosenbergN 2009 Explaining worldwide patterns of human genetic variation using a coalescent-based serial founder model of migration outward from africa. Proceedings of the National Academy of Sciences of the United States of America 106 16057 16062
62. AutonABrycKBoykoALohmuellerKNovembreJ 2009 Global distribution of genomic diversity underscores rich complex history of continental human populations. Genome Research 19 795 803
63. LeeSJMountainJKoenigBAltmanRBrownM 2008 The ethics of characterizing difference: guiding principles on using racial categories in human genetics. Genome Biology 9 404
64. MuellerL 2008 Can simple population genetic models reconcile partial match frequencies observed in large forensic databases? Journal of Genetics 87 101 108
65. KraneDBahnVBaldingDBarlowBCashH 2009 Time for DNA disclosure. Science 326 1631 1632
66. MauerM 2009 Racial disparities in the criminal justice system. Technical report, The Sentencing Project
67. YoungT 1990 Native American crime and criminal justice require criminologists' attention. Journal of Criminal Justice Education 1 111 116
68. ArmstrongTGuilfoyleMMeltonA 1996 75 88 Native Americans, Crime, and Justice, Westview Press, chapter Native American delinquency: An overview of prevalence, causes, and correlates
69. HomerNSzelingerSRedmanMDugganDTembeW 2008 Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. PLoS Genet 4 e10000167 doi:10.1371/journal.pgen.1000167
70. DaltonR 2002 Tribe blasts ‘exploitation’ of blood samples. Nature 420 111
71. WiwcharD 16 December 2004 Nuu-chah-nulth blood returns to west coast. Ha-Shilth-Sa
72. MelloMWolfL 2010 The Havasupai Indian tribe case – lessons for research involving stored biologic samples. The New England Journal of Medicine 363 204 207
73. Asociación ANDES May 2011 Genographic project hunts the last of the Incas. ANDES Communiqué
74. ArbourLCookD 2006 DNA on loan: Issues to consider when carrying out genetic research with Aboriginal families and communities. Community Genetics 9 153 160
75. GoeringSHollandSFryer-EdwardsK 2008 Transforming genetic research practices with marginalized communities: A case for responsive justice. Hastings Center Report 38 43 53
76. AndersonJ 2009 Commentary on implications of the Genographic Project. International Journal of Cultural Property 16 213 217
77. KayeJHeeneyCHawkinsNde VriesJBoddingtonP 2009 Data sharing in genomics – re-shaping scientific practice. Nature Reviews Genetics 10 331 335
78. McInessR 2011 2010 presidential address: Culture: The silent language geneticists must learn – genetic research with Indigenous populations. American Journal of Human Genetics 88 254 261
79. WeirBAndersonAHelperA 2006 Genetic relatedness analysis: modern data and new challenges. Nature Reviews Genetics 7 771 780
80. HolsingerKWeirB 2009 Genetics in geographically structured populations: defining, estimating and interpreting fST. Nature Reviews Genetics 10 639 650
81. BeechamGWeirB 2011 Confidence interval of the likelihood ratio associated with mixed stain DNA evidence. Journal of Forensic Sciences 56 S166 S171
82. CurranJTriggsCBuckletonJWeirB 1999 Interpreting DNA mixtures in structured populations. Journal of Forensic Sciences 44 987 995
83. National Research Council: Committee on DNA forensic science 1996 The evaluation of forensic DNA evidence National Academy Press
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Genetika Reprodukčná medicínaČlánok vyšiel v časopise
PLOS Genetics
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