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Mutations or exclusion: an unusual case in paternity testing

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Abstract

In an immigration case with the scope of family reunification, the DNA extracted from the saliva samples of the male child, the alleged mother and the putative father was typed with 22 autosomal short tandem repeat (STR) systems. In seven STR systems, the alleged mother could be excluded from maternity, and the case then had to be regarded as a deficiency case. Taking this fact into consideration, only two exclusions were found for the putative father, and the question arose whether there was an exclusion of the putative father or the existence of two mutations. Autosomal STR typing could not clarify the case, but the application of eight Y-chromosomal markers showed that the alleged father could be excluded from paternity.

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References

  • Adamek H, Baur M, Brinkmann B, Eisenmenger (2002) Richtlinien für die Erstattung von Abstammungsgutachten. Dtsch Ärztebl 99:541–543

    Google Scholar 

  • Barbarii LE, Rolf B, Dermengiu D (2003) Y-chromosomal STR haplotypes in a Romanian population sample. Int J Legal Med 117:312–315

    Article  PubMed  Google Scholar 

  • Barbarii LE, Rolf B, Constantinescu C, Hohoff C, Calistru P, Dermengiu D (2004) Allele frequencies of 13 short tandem repeat (STR) loci in the Romanian population. Forensic Sci Int 141:171–174

    Article  PubMed  CAS  Google Scholar 

  • Brinkmann B, Möller A, Wiegand P (1995) Structure of new mutations in 2 STR systems. Int J Legal Med 107:201–203

    Article  PubMed  CAS  Google Scholar 

  • Brinkmann B, Klintschar M, Neuhuber F, Hühne J, Rolf B (1998) Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Am J Hum Genet 62:1408–1415

    Article  PubMed  CAS  Google Scholar 

  • Brinkmann B, Pfeiffer H, Schürenkamp M, Hohoff C (2001) The evidential value of STRs. An analysis of exclusion cases. Int J Legal Med 114:173–177

    Article  PubMed  CAS  Google Scholar 

  • Carracedo A, Beckmann A, Bengs A, Brinkmann B, Caglia A, Capelli C, Gill P, Gusmao L, Hagelberg C, Hohoff C, Hoste B, Kihlgren A, Kloostermann A, Dupuy BM, Morling N, O'Donnell G, Parson W, Philipps C, Pouwels M, Scheithauer R, Schmitter H, Schneider PM, Schumm J, Skitsa I, Stradmann-Bellinghausen B, Stuart M, Syndercombe Court D, Vide C (2001) Results of a collaborative study of the EDNAP group regarding the reproducibility and robustness of the Y-chromosome STRs DYS19, DYS389I and II, DYS390 and DYS393 in a pentaplex format. Forensic Sci Int 119:28–41

    Article  PubMed  CAS  Google Scholar 

  • Elston RC, Steward J (1971) A general model for the genetic analysis of pedigree data. Hum Hered 21:523–542

    Article  PubMed  CAS  Google Scholar 

  • Gill P, Brenner C, Brinkmann B, Budowle B, Carracedo A, Jobling MA, de Knijff P, Kayser M, Krawczak M, Mayr WR, Morling N, Olaisen B, Pascali V, Prinz M, Roewer L, Schneider PM, Sajantila A, Tyler-Smith C (2001) DNA Commission of the International Society of Forensic genetics: recommendations of forensic analysis using Y-chromosome STRs. Forensic Sci Int 124:5–10

    Article  PubMed  CAS  Google Scholar 

  • Heinrich M, Müller M, Rand S, Brinkman B, Hohoff C (2004) Allelic drop out in the STR system ACTBP2 (SE33) as a result of mutations in the primer binding region. Int J Legal Med 118:361–363

    Article  PubMed  Google Scholar 

  • Jobling MA, Pandya A, Tyler-Smith C (1997) The Y chromosome in forensic analysis and paternity testing. Int J Legal Med 110:118–124

    Article  PubMed  CAS  Google Scholar 

  • Junge A, Madea B (1998) Validation studies and characterization of variant alleles at the short tandem repeat locus D12S391. Int J Legal Med 112:135–144

    Article  Google Scholar 

  • Junge A, Verheesen M, Madea B (2001) Validation studies and sequencing data of the short tandem repeat locus D8S320. Forensic Sci Int 119:11–16

    Article  PubMed  CAS  Google Scholar 

  • Junge A, Lederer T, Braunschweiger G, Madea B (2003) Validation of the multiplex kit genRES MPX-2 for forensic casework analysis. Int J Legal Med 117:317–325

    Article  PubMed  CAS  Google Scholar 

  • Kayser M, Caglia A, Corach D, Fretwell N, Gehrig C, Graziosi G, Heidorn F, Herrmann S, Herzog B, Hidding M, Honda K, Jobling M, Krawczak M, Leim K, Meuser S, Meyer E, Oesterreich W, Panda A, Parson W, Penacino G, Perez-Lezaun A, Piccinini A, Prinz M, Schmitt C, Schneider PM, Szibor R, Teifel-Greding J, Weichhold G, de Knijff P, Roewer L (1997) Evaluation on Y-chromosomal STRs: a multicenter study. Int J Legal Med 110:125–133

    Article  PubMed  CAS  Google Scholar 

  • Kayser M, Krüger C, Nagy M, Geserick G, de Knijff P, Roewer L (1998) Y-chromosomal analysis in paternity testing: experiences and recommendations. In: Olaisen B, Brinkmann B, Lincoln PJ (eds) Progress in forensic genetics 7. Elsevier, Amsterdam, pp 494–496

    Google Scholar 

  • Kishida T, Wang W, Fukuda M, Tamaki Y (1996) Two deficiency cases of disputed paternity: sibling or half-sibling? Nippon Hoigaku Zasshi 50:78–81

    PubMed  CAS  Google Scholar 

  • Morling N, Allen R, Carracedo A, Geada H, Guidet F, Hallenberg C, Martin W, Mayr WR, Olaisen B, Pascali V, Schneider PM (2003) Paternity Testing Commission of the International Society of Forensic Genetics. Recommendations on genetic investigations in paternity cases. Int J Legal Med 117:51–61

    PubMed  CAS  Google Scholar 

  • Rolf B, Keil W, Brinkmann B, Roewer L, Fimmers R (2001) Paternity testing using Y-STR haplotypes: assigning a probability for paternity in cases of mutations. Int J Legal Med 115:12–15

    Article  PubMed  CAS  Google Scholar 

  • Santos FR, Epplen JT, Pena SDJ (1993) Testing deficiency paternity cases with a Y-linked tetranucleotide repeat polymorphism. In: Pena SDJ, Chakraborty R, Epplen JT, Jeffreys AJ (eds) DNA fingerprinting: the state of science. Birkhäuser, Basel, pp 221–230

    Google Scholar 

  • Schneider PM, d'Aloja E, Dupuy BM , Eriksen B, Jangblad A, Kloosterman AD, Kratzer A, Lareu MV, Pfitzinger H, Rand S, Scheithauer R, Schmitter H, Skitsa I, Syndercombe-Court D, Vide MC (1999) Results of a collaborative study regarding standardization of the Y-linked STR system DYS385 by the European DNA Profiling (EDNAP) group. Forensic Sci Int 102:159–165

    Article  PubMed  CAS  Google Scholar 

  • Thangaraj K, Reddy AG, Singh L (2004) Mutation in the STR locus D21S11 of father causing allele mismatch in the child. J Forensic Sci 49:1–5

    Article  Google Scholar 

  • Walsh PS, Metzger DA, Higuchi R (1991) Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. BioTechniques 10:506–513

    PubMed  CAS  Google Scholar 

  • Weispfenning R (2004) STR Workshop Handbuch (Promega GmbH, Mannheim)

    Google Scholar 

  • Wiegand P, Lareu MV, Schürenkamp M, Kleiber M, Brinkmann B (1999) D18S535, D1S1656 and D10S2325: three efficient short tandem repeats for forensic genetics. Int J Legal Med 112:360–363

    Article  PubMed  CAS  Google Scholar 

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Correspondence to A. Junge.

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Junge, A., Brinkmann, B., Fimmers, R. et al. Mutations or exclusion: an unusual case in paternity testing. Int J Legal Med 120, 360–363 (2006). https://doi.org/10.1007/s00414-005-0045-y

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  • DOI: https://doi.org/10.1007/s00414-005-0045-y

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