Skip to main content
Top
Published in: International Journal of Legal Medicine 5/2009

01-09-2009 | Case Report

One person with two DNA profiles: a(nother) case of mosaicism or chimerism

Authors: Vincent Castella, Maria del Mar Lesta, Patrice Mangin

Published in: International Journal of Legal Medicine | Issue 5/2009

Login to get access

Abstract

Nuclear DNA markers, such as short tandem repeats (STR), are widely used for crime investigation and paternity testing. STR were used to determine whether a piece of tissue regurgitated by a dog was part of the penis of a dead, emasculated, man. Unexpectedly, when analyzing the recovered material and a blood sample from the deceased, five out of the 18 loci differed. According to the results, one could have concluded that these samples originated from two different persons. However, taking into account contextual information and data from complementary genetic analyses, the most likely hypothesis was that the deceased was a genetic mosaic or a chimera. Within a forensic genetic context, such genetic peculiarities may prevent associating the perpetrator of an offense with a stain left at a crime scene or lead to false paternity exclusions. Fast recognition of mosaics or chimeras, adapted sampling scheme, as well as careful interpretation of the data should allow avoiding such pitfalls.
Appendix
Available only for authorised users
Literature
1.
go back to reference Milde A, Kühl-Burmeister R, Ritz-Timme S, Kaatsch H-J (1999) DNA typing in cases of blood chimerism. Int J Legal Med 112:333–335PubMedCrossRef Milde A, Kühl-Burmeister R, Ritz-Timme S, Kaatsch H-J (1999) DNA typing in cases of blood chimerism. Int J Legal Med 112:333–335PubMedCrossRef
2.
go back to reference Graham EAM, Tsokos M, Rutty GN (2007) Can post-mortem blood be used for DNA profiling after peri-mortem blood transfusion? Int J Legal Med 121:18–23PubMedCrossRef Graham EAM, Tsokos M, Rutty GN (2007) Can post-mortem blood be used for DNA profiling after peri-mortem blood transfusion? Int J Legal Med 121:18–23PubMedCrossRef
3.
go back to reference Dauber EM, Dorner G, Mitterbauer M et al (2004) Discrepant results of samples taken from different tissues of single individual. International Congress Series 1261. Elsevier, Amsterdam, pp 48–49 Dauber EM, Dorner G, Mitterbauer M et al (2004) Discrepant results of samples taken from different tissues of single individual. International Congress Series 1261. Elsevier, Amsterdam, pp 48–49
4.
go back to reference Pope S, Chapman H, Lambert JA (2006) Effect of bone marrow transplant on DNA profiles: a case example. Sci Justice 46:231–237PubMedCrossRef Pope S, Chapman H, Lambert JA (2006) Effect of bone marrow transplant on DNA profiles: a case example. Sci Justice 46:231–237PubMedCrossRef
5.
go back to reference Dauber EM, Müller CJ, Schöniger-Hekele M et al (2006) Artificial blood chimerism and graft-versus-host disease after liver transplantation. International Congress Series 1288. Elsevier, Amsterdam, pp 840–842 Dauber EM, Müller CJ, Schöniger-Hekele M et al (2006) Artificial blood chimerism and graft-versus-host disease after liver transplantation. International Congress Series 1288. Elsevier, Amsterdam, pp 840–842
6.
go back to reference Tran SD, Pillemer SR, Dutra A et al (2003) Differentiation of human bone marrow-derived cells into buccal epithelial cells in vivo: a molecular analytical study. Lancet 361:1084–1088PubMedCrossRef Tran SD, Pillemer SR, Dutra A et al (2003) Differentiation of human bone marrow-derived cells into buccal epithelial cells in vivo: a molecular analytical study. Lancet 361:1084–1088PubMedCrossRef
7.
go back to reference Yu N, Kruskall MS, Yunis JJ et al (2002) Disputed maternity leading to identification of tetragametic chimerism. N Engl J Med 346:1545–1552PubMedCrossRef Yu N, Kruskall MS, Yunis JJ et al (2002) Disputed maternity leading to identification of tetragametic chimerism. N Engl J Med 346:1545–1552PubMedCrossRef
8.
go back to reference Boklage CE (2006) Embryogenesis of chimeras, twins and anterior midline asymmetries. Hum Reprod 21:579–591PubMedCrossRef Boklage CE (2006) Embryogenesis of chimeras, twins and anterior midline asymmetries. Hum Reprod 21:579–591PubMedCrossRef
9.
go back to reference Rubocki RJ, McCue BJ, Duffy KJ, Shepard KL, Shepherd SJ, Wisecarver JL (2001) Natural DNA mixtures generated in fraternal twins in utero. J Forensic Sci 46:120–125PubMed Rubocki RJ, McCue BJ, Duffy KJ, Shepard KL, Shepherd SJ, Wisecarver JL (2001) Natural DNA mixtures generated in fraternal twins in utero. J Forensic Sci 46:120–125PubMed
10.
go back to reference Gunzer C, Dauber EM, Petrasek M, Glock B, Schwartz DWM, Mayr WR (2004) Apparent exclusion of maternity in a twin chimera carrying only her twin brother’s blood cells. Vox Sang 87:130 Gunzer C, Dauber EM, Petrasek M, Glock B, Schwartz DWM, Mayr WR (2004) Apparent exclusion of maternity in a twin chimera carrying only her twin brother’s blood cells. Vox Sang 87:130
11.
go back to reference Rodriguez Cardozo MB, Cólica MV, Abovich MA, Szöcs A, Di Lonardo AM (2004) Maternity testing in a chimerical child. International Congress Series 1261. Elsevier, Amsterdam, pp 502–504 Rodriguez Cardozo MB, Cólica MV, Abovich MA, Szöcs A, Di Lonardo AM (2004) Maternity testing in a chimerical child. International Congress Series 1261. Elsevier, Amsterdam, pp 502–504
12.
go back to reference Malan V, Gesny R, Morichon-Delvallez N et al (2007) Prenatal diagnosis and normal outcome of a 46, XX/46, XY chimera: a case report. Hum Reprod 22:1037–1041PubMedCrossRef Malan V, Gesny R, Morichon-Delvallez N et al (2007) Prenatal diagnosis and normal outcome of a 46, XX/46, XY chimera: a case report. Hum Reprod 22:1037–1041PubMedCrossRef
13.
go back to reference Wegener R, Weirich V, Dauber EM, Mayr WR (2006) Mother-child exclsuion due to peternal uniparental disomy 6. Int J Legal Med 120:282–285PubMedCrossRef Wegener R, Weirich V, Dauber EM, Mayr WR (2006) Mother-child exclsuion due to peternal uniparental disomy 6. Int J Legal Med 120:282–285PubMedCrossRef
14.
go back to reference Verdiani S, Bonsignore A, Casarino L, Zia SC, Ferrari GM, De Stefano F (2009) An unusual observation of tetragametic chimerism. Forensic considerations. Int J Legal Med, in press Verdiani S, Bonsignore A, Casarino L, Zia SC, Ferrari GM, De Stefano F (2009) An unusual observation of tetragametic chimerism. Forensic considerations. Int J Legal Med, in press
15.
go back to reference Rolf B, Wiegand P, Brinkmann B (2002) Somatic mutations at STR loci-a reason for three-allele pattern and mosaicism. Forensic Sci Int 126:200–202PubMedCrossRef Rolf B, Wiegand P, Brinkmann B (2002) Somatic mutations at STR loci-a reason for three-allele pattern and mosaicism. Forensic Sci Int 126:200–202PubMedCrossRef
16.
go back to reference Clayton TM, Guest JL, Urquhart AJ, Gill PD (2004) A genetic basis for anomalous band patterns encountered during DNA STR profiling. J Forensic Sci 49:1207–1214PubMedCrossRef Clayton TM, Guest JL, Urquhart AJ, Gill PD (2004) A genetic basis for anomalous band patterns encountered during DNA STR profiling. J Forensic Sci 49:1207–1214PubMedCrossRef
17.
go back to reference Poetsch M, Petersmann A, Woenckhaus C, Protzel C, Dittberner T, Lignitz E, Kleist B (2004) Evaluation of allelic alterations in short tandem repeats in different kinds of solid tumors—possible pitfalls in forensic casework. Forensic Sci Int 145:1–6PubMed Poetsch M, Petersmann A, Woenckhaus C, Protzel C, Dittberner T, Lignitz E, Kleist B (2004) Evaluation of allelic alterations in short tandem repeats in different kinds of solid tumors—possible pitfalls in forensic casework. Forensic Sci Int 145:1–6PubMed
18.
go back to reference Pai CY, Hsieh LL, Tsai CW, Chiou FS, Yang CH, Hsu BD (2002) Allelic alteration at the STR markers in the buccal tissue cells of oral cancer patients and the oral epithelial cells of healthy betel quid-chewers: an evaluation of forensic applicability. Forensic Sci Int 129:158–167PubMedCrossRef Pai CY, Hsieh LL, Tsai CW, Chiou FS, Yang CH, Hsu BD (2002) Allelic alteration at the STR markers in the buccal tissue cells of oral cancer patients and the oral epithelial cells of healthy betel quid-chewers: an evaluation of forensic applicability. Forensic Sci Int 129:158–167PubMedCrossRef
19.
go back to reference Peloso G, Grignani P, Rosso R, Previderè C (2003) Forensic evaluation of tetranucleotide STR instability in lung cancer. International Congress Series 1239. Elsevier, Amsterdam, pp 719–721 Peloso G, Grignani P, Rosso R, Previderè C (2003) Forensic evaluation of tetranucleotide STR instability in lung cancer. International Congress Series 1239. Elsevier, Amsterdam, pp 719–721
20.
go back to reference Edelmann J, Lessig R, Hering S, Horn L-C (2004) Loss of heterozygosity and microsatellite instability of forensically used STR markers in human cervical carcinoma. International Congress Series 1261. Elsevier, Amsterdam, pp 499–501 Edelmann J, Lessig R, Hering S, Horn L-C (2004) Loss of heterozygosity and microsatellite instability of forensically used STR markers in human cervical carcinoma. International Congress Series 1261. Elsevier, Amsterdam, pp 499–501
21.
go back to reference Vauhkonen H, Hedman M, Vauhkonen M, Kataja M, Sipponen P, Sajantila A (2004) Evaluation of gastrointestinal cancer tissues as a source of genetic information for forensic investigations by using STRs. Forensic Sci Int 139:159–167PubMedCrossRef Vauhkonen H, Hedman M, Vauhkonen M, Kataja M, Sipponen P, Sajantila A (2004) Evaluation of gastrointestinal cancer tissues as a source of genetic information for forensic investigations by using STRs. Forensic Sci Int 139:159–167PubMedCrossRef
22.
go back to reference Parsons R, Li GM, Longley MJ et al (1993) Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell 75:1227–1236PubMedCrossRef Parsons R, Li GM, Longley MJ et al (1993) Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell 75:1227–1236PubMedCrossRef
23.
go back to reference Malan V, Vekemans M, Turleau C (2006) Chimera and other fertilization errors. Clin Genet 70:363–373PubMedCrossRef Malan V, Vekemans M, Turleau C (2006) Chimera and other fertilization errors. Clin Genet 70:363–373PubMedCrossRef
24.
go back to reference Aitken CGG, Taroni F (2004) Statistics and the evaluation of evidence for forensic scientists. Wiley, ChichesterCrossRef Aitken CGG, Taroni F (2004) Statistics and the evaluation of evidence for forensic scientists. Wiley, ChichesterCrossRef
25.
go back to reference Foreman LA, Evett IW (2001) Statistical analyses to support forensic interpretation for a new ten-locus STR profiling system. Int J Legal Med 114:147–155PubMedCrossRef Foreman LA, Evett IW (2001) Statistical analyses to support forensic interpretation for a new ten-locus STR profiling system. Int J Legal Med 114:147–155PubMedCrossRef
26.
go back to reference Adamek H, Baur M, Brinkmann B, Eisenmenger W (2002) Richtlinien für die Erstattung von Abstammungsgutachten. Dtsch Ärztebl 99:541–543 Adamek H, Baur M, Brinkmann B, Eisenmenger W (2002) Richtlinien für die Erstattung von Abstammungsgutachten. Dtsch Ärztebl 99:541–543
27.
go back to reference Cifuentes LO, Martínez EH, Acuña MP, Jonquera HG (2006) Probability of exclusion in paternity testing: time to reassess. J Forensic Sci 51:349–350PubMedCrossRef Cifuentes LO, Martínez EH, Acuña MP, Jonquera HG (2006) Probability of exclusion in paternity testing: time to reassess. J Forensic Sci 51:349–350PubMedCrossRef
28.
go back to reference Dawid AP, Mortera J, Vicard P (2007) Object-oriented Bayesian networks for complex forensic DNA profiling problems. Forensic Sci Int 169:195–205PubMedCrossRef Dawid AP, Mortera J, Vicard P (2007) Object-oriented Bayesian networks for complex forensic DNA profiling problems. Forensic Sci Int 169:195–205PubMedCrossRef
Metadata
Title
One person with two DNA profiles: a(nother) case of mosaicism or chimerism
Authors
Vincent Castella
Maria del Mar Lesta
Patrice Mangin
Publication date
01-09-2009
Publisher
Springer-Verlag
Published in
International Journal of Legal Medicine / Issue 5/2009
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI
https://doi.org/10.1007/s00414-009-0331-1

Other articles of this Issue 5/2009

International Journal of Legal Medicine 5/2009 Go to the issue