19 Apr


Figure 11.2 The identification of human remains recovered from an air crash [35]. Blood samples were provided by the mother and father who were missing a son. Alleles in the profile of human remains could have come from the mother and father (indicated by the arrows). The profiles were generated using the AmpFISTR® Profiler Plus® STR kit (Applied Biosystems) (see plate section for full-colour version of this figure)

With low paternity indexes the impact of prior odds can be significant. However, with the possibility of analysing a large number of STR loci, the PIs are typically in the millions and the posterior probability of paternity is therefore extremely high, even when the prior odds are very low. In the paternity test presented above, even with the prior odds as low as 0.001, the probability of paternity is still 99.9966%. In addition to the standard paternity testing where them other,child and all eged father are available, testing can also be carried out when the mother is not available [14-17]. More complex relationships can be examined, such as determination of sibship [18] and paternityteststodiscriminatebetweencloserelatives[12,19-21].Calculationscanalso incorporate correction factors to allow for deficiencies in allele frequency databases, in particular, the effects of subpopulations [22, 23] (see Chapter 8). Fortunately, computer programs have been developed to deal with both routine and complex scenarios[24-30].

Identification of human remains

The first application of DNA analysis to the identification of human remains was in 1987, when skeletal remains were profiled using single nucleotide polymorphisms in the DQα locus [31, 32]. Unfortunately, this system did not have high powers of discrimination and it was not until the early 1990s that DNA profiling was successfully applied to the identification of human remains [33, 34]. As DNA profiling technology and methodology have evolved to be more robust and powerful, it has been applied to increasingly complex situations including the identification of people killed in air crashes [29, 35-38]; fire [39-42]; terrorist attacks [43-46]; natural disasters [47] and war [48-51]. STRs are the most commonly used tool but mitochondrial DNA (see Chapter 13) and SNPs (see Chapter 12) have also been employed on occasion.

The matching of human remains can be through comparison to personal objects that belonged to the missing person, such as combs and toothbrushes [52], or by comparison to close family members (Figure 11.2). In cases that involve hundreds of victims, the statistical analysis becomes very com- plex. Because of the high number of pair-wise comparisons that are made between the victims and relatives, the potential for coincidental matches that result in false positives and ultimately misidentifications is significant [47, 52, 53]. The existence of relatives within the population of victims also complicates the analysis [29, 47] and there are limitations as to what can be achieved.

Further reading
Balding, D.J. (2005) Weight-of-evidence for Forensic DNA Profiles. John Wiley & Sons, Ltd, Chichester, pp. 82-134.
Buckleton, J., Triggs, C.M., and Walsh, S.J. (2005) Forensic DNA Evidence Interpretation. CRC Press, pp. 341-437.

1.American Association of Blood Banks (2004) Annual report summary for testing in 2004. Testing Accreditation Program/ptprog.htm

2.Jeffreys, A.J., et al. (1985) Positive Identification of an immigration test-case using human DNA fingerprints. Nature 317, 818-819.

3.Szibor, R., et al. (2003) Use of X-linked markers for forensic purposes. International Journal of Legal Medicine 117, 67-74.

4.Junge, A., et al. (2006) Mutations or exclusion: an unusual case in paternity testing. International Journal of Legal Medicine 120, 360-363.

5.Makrydimas, G., et al. (2004) Early prenatal diagnosis by celocentesis. Ultrasound in Obstetrics and Gynecology 23, 482-485.

6.Makrydimas, G., et al. (2004) Prenatal paternity testing using DNA extracted from coelomic cells. Fetal Diagnosis and Therapy 19, 75-77.

7.Brinkmann, B., et al. (1998) Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. American Journal of Human Genetics 62, 1408-1415.

8.Gunn, P.R., et al. (1997) DNA analysis in disputed parentage: the occurrence of two appar-ently false exclusions of paternity, both at short tandem repeat (STR) loci, in the one child. Electrophoresis 18, 1650-1652.

9.Leopoldino, A.M., and Pena, S.D.J. (2003) The mutational spectrum of human autosomal tetranu-cleotide microsatellites. Human Mutation 21, 71-79.

10.Chakraborty,R.,and Stivers,D.N.(1996) Paternity exclusionby DNA markers: effects ofpaternal mutations. Journal of Forensic Sciences 41, 671-677.

11.Lucy, D. (2005) Introduction to Statistics for Forensic Scientists. John Wiley and Sons, Ltd, Chichester.

12.Evett, I.W., and Weir, B.S. (1998) Interpreting DNA Evidence. Sinauer Associates, Inc.

13.Marino, M., et al. (2006) Population genetic analysis of 15 autosomal STRs loci in the central region of Argentina. Forensic Science International 161, 72-77.

14.Chakraborty, R., et al. (1994) Paternity evaluation in cases lacking a mother and non detectable alleles. International Journal of Legal Medicine 107, 127-131.

15.Poetsch, M., et al. (2006) The problem of single parent/child paternity analysis – Practical results involving 336 children and 348 unrelated men. Forensic Science International 159, 98-103.

16.Thomson, J.A., et al. (2001) Analysis of disputed single-parent/child and sibling relationships using 16 STR loci. International Journal of Legal Medicine 115, 128-134.

17.Brenner, C.H. (1993) A note on paternity computation in cases lacking a mother. Transfusion 33, 51-54.

18.Wenk, R.E., et al. (1996) Determination of sibship in any two persons. Transfusion 36, 259-262.

19.Ayres, K.L., and Balding, D.J. (2005) Paternity index calculations when some individuals share common ancestry. Forensic Science International 151, 101-103.

20.Fung, W.K., et al. (2002) Power of exclusion revisited: probability of excluding relatives of the true father from paternity. International Journal of Legal Medicine 116, 64-67.

21.Wenk, R.E., and Chiafari, F.A. (2000) Distinguishing full siblings from half-siblings in limited pedigrees. Transfusion 40, 44-47.

22.Ayres, K.L. (2000) Relatedness testing in subdivided populations. Forensic Science International 114,107-115.

23.Fung, W.K., et al. (2003) Testing for kinship in a subdivided population. Forensic Science Inter-national 135, 105-109.

24.Fung, W.K. (2003) User-friendly programs for easy calculations in paternity testing and kinship determinations. Forensic Science International 136, 22-34.

25.Riancho, J.A., and Zarrabeitia, M.T. (2003) A Windows-based software for common paternity and sibling analyses. Forensic Science International 135, 232-234.

26.Brenner, C.H. (1997) Symbolic kinship program. Genetics 145, 535-542.

27.Fung, W.K., et al. (2006) On statistical analysis of forensic DNA: theory, methods and computer programs. Forensic Science International 162, 17-23.

28.Brenner, C.H. DNA.VIEW. (

29.Leclair, B., et al. (2004) Enhanced kinship analysis and STR-based DNA typing for human identification in mass fatality incidents: The Swissair Flight 111 disaster. Journal of Forensic Sciences 49, 939-953.

30.Buckleton, J., et al. (2005) Forensic DNA Evidence Interpretation. CRC Press.

31.Stoneking, M., et al. (1991) Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes. American Journal of Human Genetics 48, 370-382.

32.Blake, E., et al. (1992) Polymerase chain-reaction (Pcr) amplification and human-leukocyte antigen (Hla)-Dq-Alpha oligonucleotide typing on biological evidence samples – casework ex- perience. Journal of Forensic Sciences 37, 700-726.

33.Hagelberg, E., et al. (1991) Identification of the skeletal remains of a murder victim by DNA analysis. Nature 352, 427-429.

34.Sajantila, A., et al. (1991) The polymerase chain-reaction and postmortem forensic identity testing – application of amplified D1S80 and HLA-DQ-Alpha loci to the identification of fire victims. Forensic Science International 51, 23-34.

35.Goodwin, W., et al. (1999) The use of mitochondrial DNA and short tandem repeat typing in the identification of air crash victims. Electrophoresis 20, 1707-1711.

36.Olaisen, B., et al. (1997) Identification by DNA analysis of the victims of the August 1996Spits-bergen civil aircraft disaster. Nature Genetics. 15, 402-405.

37.Hsu, C.M., et al. (1999) Identification of victims of the 1998 Taoyuan Airbus crash accident using DNA analysis. International Journal of Legal Medicine 113, 43-46.

38.Ballantyne, J. (1997) Mass disaster genetics. Nature Genetics. 15, 329-331.

39.Clayton, T.M., et al. (1995) Further validation of a quadruplex STR DNA typing system: A collaborative effort to identify victims of a mass disaster. Forensic Science International 76,17-25.

40.Clayton, T.M., et al. (1995) Identification of bodies from the scene of a mass disaster using DNA amplification of short tandem repeat (STR) loci. Forensic Science International 76, 7-15.

41.Meyer, H.J. (2003) The Kaprun cable car fire disaster – aspects of forensic organisation following a mass fatality with 155 victims. Forensic Science International 138, 1-7.

42.Calacal, G.C., et al. (2005) Identification of exhumed remains of fire tragedy victims using con-ventional methods and autosomal/Y-chromosomal short tandem repeat DNA profiling. American Journal of Forensic Medicine and Pathology 26, 285-291.

43.Kahana, T., et al. (1997) Suicidal terrorist bombings in Israel – identification of human remains. Journal of Forensic Sciences 42, 260-264.

44.Budimlija, Z.M., et al. (2003) World trade center human identification project: experiences with individual body identification cases. Croatian Medical Journal 44, 259-263.

45.Holland, M.M., et al. (2003) Development of a quality, high throughput DNA analysis procedure for skeletal samples to assist with the identification of victims from the world trade center attacks. Croatian Medical Journal 44, 264-272.

46.Budowle, B., et al. (2005) Forensic aspects of mass disasters: strategic considerations for DNA-based human identification. Legal Medicine 7, 230-243.

47.Brenner, C.H. (2006) Some mathematical problems in the DNA identification of victims in the 2004 tsunami and similar mass fatalities. Forensic Science International 157, 172-180.

48.Huffine, E., et al. (2001) Mass identification of persons missing from the break-up of the former Yugoslavia: structure, function, and role of the International Commission on Missing Persons. Croatian Medical Journal 42, 271-275.

49.Holland, M.M., et al. (1993) Mitochondrial-DNA sequence-analysis of human skeletal remains – identification of remains from the Vietnam War. Journal of Forensic Sciences 38, 542-553.

50.Boles, T.C., et al. (1995) Forensic DNA testing on skeletal remains from mass graves – a pilot project in Guatemala. Journal of Forensic Sciences 40, 349-355.

51.Lleonart,R.,etal.(2000) Forensic identification of skeletal remains from members of Ernes to Che Guevara’s guerrillas in Bolivia based an DNA typing. International Journal of Legal Medicine 113,98-101.

52.Brenner, C.H., and Weir, B.S. (2003) Issues and strategies in the DNA identification of World
Trade Center victims. Theoretical Population Biology 63, 173-178.

53.Gornik, I., et al. (2002) The identification of war victims by reverse paternity is associated with
significant risks of false inclusion. International Journal of Legal Medicine 116, 255-257.

Random Posts

Comments are closed.