INTERPOL HANDBOOK ON DNA DATA EXCHANGE AND PRACTICE

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Recent progress in the forensic use of mtDNA has been brought about by the contextin which it has been acquired more than through technological breakthroughs. Forexample, in response to the European refugee crisis, Spanish forensic authoritiesformed a non-criminal mtDNA Database to assist in the identification of remains andinvestigation of this serious social issue 29 . Likewise in the United States, the automationof mtDNA techniques played a role in the identification process that followed theWorld Trade Center (WTC) tragedy 30,31 . The social benefits brought by these initiativeshighlight the role mtDNA analysis can play in non-criminal or coronial investigations,particularly where repatriation of human remains is the key objective.Because mtDNA is only inherited down the maternal line there is a direct similarityin the mtDNA sequences of mother and child. At a population level, this pattern ofinheritance shows up as a reduced diversity among mtDNA haplotypes of members ofthe same population group. In this way the mtDNA haplotype observed in a sample canbe indicative of the donor’s ethnic background as individual mutations are quite rarebut over time have accumulated in different parts of the mtDNA as modern humansdispersed to different parts of the world. Many published studies have analysed specificethnic populations or geographical groups to determine the most common mtDNAhaplogroups observed. These studies range from analysis at a continental level down tostudies at a community or tribal level. The continental origin of at least 70% of African,European, Asian and Native American mtDNAs has been determined 32 . Informationon forensic mtDNA including a major database of population haplotypes is availablethrough the EMPOP website www.empop.org 33 which has been established and endorsedby the European DNA Profiling Group (EDNAP) 34 .The analysis of polymorphisms on the Y-chromosome has also developed into a valuableforensic technique 35 . The male specificity of the Y-chromosome makes it particularlysuitable for the resolution of problematic situations such as complex mixtures andkinship investigations. In casework settings, Y-chromosome analysis is especiallyuseful for typing mixed male-female stains that commonly occur as a result of sexualassault on a female victim by a male offender. Selective targeting of the male (Y) DNAremoves the prospect of the female DNA swamping the PCR and allows unambiguousdetermination of the male profile (which in this case is a Y haplotype).As with mtDNA, forensic exploitation of molecular variation on the Y-chromosomeis not new 36,37 ; however, refinement, standardization and sophistication of thecore methodology has increased the casework suitability of the technique 38,39,40 .Y-STR multiplexes have been constructed and are available as commercial kits(see Table 5). Forensic laboratories utilising Y-chromosome analysis are encouraged tofollow recommendations of the International Forensic Y Users’ Group regarding loci andnomenclature and to contribute haplotype data to informative research databases 41,42 .PAGE 78GEOGRAPHICAL SEARCH, PHYLOGENY, PHYSICAL CHARACTERISTICSAND OTHER USES
year of release name n° of loci2002 Y-PLEX12 122003 Promega PowerPlex Y 122004 ABI AmpFlSTR® Yfiler 17Table 5. Commercially available Y - chromosome testsThere is also potential of Y-specific haplotypes to demarcate the population of origin ofa donor of a biological sample. This is because the Y-haplotype represents the historyof the male lineage of the donor. Population signatures from Y-chromosome haplotypestend to be more discriminatory than those derived from mtDNA – although they havethe disadvantage of only being able to be derived from male samples. The added localdiversity has been attributed to social practices such as patrilocality. Patrilocality is apractice evident in approximately 70% of modern human populations that describesthe movement of women to the man’s place of residence after marriage. This resultsin less geographical differentiation of maternal lineages, and increased differentiationof the male specific Y chromosome 43,44 . This level of inference is obviously of forensicinterest 45,46 and as the level of use of Y-chromosome testing increases, this capability willno doubt be further explored. Major internet-based population databases currently existand users can search the haplotype of casework samples and observe the frequencyof its occurrence in other population groups provided from around the world. Thesewebsites also offer additional features such as assistance with statistical interpretation.The major examples have been listed below:Y Chromosome Haplotype Reference Database (YHRD)(available at http://www.ystr.org/index.html)PowerPlex® Y Haplotype Database(available at http://www.promega.com/techserv/tools/pplexy/default.htm)Applied Biosystems® YFiler Haplotype Database(available at http://www.appliedbiosystems.com/yfilerdatabase)Reliagene Y-STR Haplotype Reference Database for U.S. Populations(available at http://www.reliagene.com/index.asp?menu_id=rd&content_id=y_frq)SNPY Reference Database(available at http://www.snp-y.org)GEOGRAPHICAL SEARCH, PHYLOGENY, PHYSICAL CHARACTERISTICSAND OTHER USESPAGE 79
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INTERPOLINTERPOL HANDBOOK ONDNA DAT
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INTERPOLINTERPOL HANDBOOK ONDNA DAT
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dna investigative considerations .
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INTRODUCTIONby ronald k. noblethe s
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•back to basics: the use of dna i
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•the dna databaseThe INTERPOL DNA
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PART i: CASE SCENARIOFICTITIOUS SCE
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He cautiously pushes the door open
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The only obvious item of evidential
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• Consider physical evidence that
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DNA SAMPLINGAND EVIDENCE COLLECTION
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•crime scene investigator (csi)Wh
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•potential sources of dnaThere ar
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Open the sampling kit and ensure th
Page 29 and 30: If at any time during the sampling
Page 31: IN THE LABORATORYOnce evidence has
Page 34 and 35: INTERPRETATION OF THE DNA PROFILEAs
Page 36: THE MATCH REPORTTo get to step 5 of
Page 43: QUALITY ASSURANCEQuality principles
Page 47 and 48: to ensure the best possible results
Page 49 and 50: •in-laboratory trainingAnother as
Page 51 and 52: •key education requirementAnother
Page 53 and 54: PART II: an overviewdna databasesPA
Page 55 and 56: With the increasing use of DNA prof
Page 57 and 58: INTERPOLMember CountryCrimeSceneRef
Page 59 and 60: THE VALUE OF A NATIONAL DNA DATABAS
Page 61 and 62: ESTABLISHING AN EFFECTIVE DNADATABA
Page 63 and 64: •need for a dna databaseOnce the
Page 65 and 66: PublicityOnce a database has been e
Page 67 and 68: It is not only the individual who i
Page 69 and 70: LEGISLATIONSpecific legislation is
Page 71: In conclusion, legislation has to f
Page 74 and 75: THE USE OF POST-CONVICTION DNA TEST
Page 76 and 77: FAMILIAL SEARCHINGThe idea that a D
Page 78 and 79: “Familial searching” has its ad
Page 82 and 83: The most informative target loci fo
Page 84 and 85: Another obvious issue associated wi
Page 86 and 87: APPENDIX 1INTERPOL Standard Set of
Page 88 and 89: 1 16 DNA CODE:VWA THO1 D21S11 FGA D
Page 90 and 91: the process of dna analysisThe biol
Page 92 and 93: AnalysisThe data generated by elect
Page 94 and 95: NameTH01, TPOX,CSF1POmonoplexes(sil
Page 96 and 97: APPENDIX 4questions around anintell
Page 98 and 99: APPENDIX 5DNA FACT SHEETDNA Profili
Page 100 and 101: APPENDIX 6interpol dna search reque
Page 102 and 103: APPENDIX 7recommendationsfrom the e
Page 104 and 105: 21. As a national DNA-database regu
Page 106 and 107: Glossary1-24/7AlleleAmelogeninBiolo
Page 108 and 109: Member CountriesMitochondrial DNA(m
Page 110 and 111: ABBREVIATIONSaimsascld/labasipbelte
Page 112 and 113: eferences1 Retrieved from: www.iso.
Page 114 and 115: 40 Sibille, I., Duverneuil, C., Lor
Page 117 and 118: OIPC-INTERPOL200, Quai Chales de Ga
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INTERPOL HANDBOOK ON DNA DATA EXCHANGE AND PRACTICE

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