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Three mutations at a Y-STR haplotype defy a paternal half-brothers kinship case analysis

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Abstract

This work presents the results of a DNA test aimed to determine a possible biological link of paternal half brotherhood of two males. The combined use of biparentally inherited markers (autosomal STRs) and a panel of 27 Y-STRs allowed us to determine the existence of a biological relationship of kinship, even after detecting three mutations at their Y-STR haplotypes along the analyses, constituting an infrequent multiple mutation situation. This case is an example illustrating the importance of having different analytical markers sets and strategies for clarifying complex kinship cases where mutations occur.

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References

  1. Butler JM (2007) Short tandem repeat typing technologies used in human identity testing. Biotechniques 43(4):ii–v. https://doi.org/10.2144/000112582

    Article  PubMed  Google Scholar 

  2. Wenk RE, Chiafari FA (2000) Distinguishing full siblings from half-siblings in limited pedigrees. Transfusion 40:1148–1149

    Article  Google Scholar 

  3. Pu CE, Linacre A (2008) Systematic evaluation of sensitivity and specificity of sibship determination by using 15 STR loci. J Forensic Leg Med 15(5):329–334. https://doi.org/10.1016/j.jflm.2007.12.018

    Article  PubMed  Google Scholar 

  4. Ginart S, Caputo M, Alechine E, Corach D, Sala A (2016) Development of a quantitation approach for total human and male DNA based on real time PCR followed by high resolution melting analysis. Electrophoresis 37(21):2734–2741. https://doi.org/10.1002/elps.201600185

    Article  CAS  PubMed  Google Scholar 

  5. Bodner M, Bastisch I, Butler JM, Fimmers R, Gill P, Gusmão L, Morling N, Phillips C, Prinz M, Schneider PM, Parson W (2016) Recommendations of the DNA Commission of the International Society for Forensic Genetics (ISFG) on quality control of autosomal Short Tandem Repeat allele frequency databasing (STRidER). Forensic Sci Int Genet 24:97–102. https://doi.org/10.1016/j.fsigen.2016.06.008

    Article  CAS  PubMed  Google Scholar 

  6. Zuccarelli G, Alechine E, Caputo M, Bobillo C, Corach D, Sala A (2011) Rapid screening for Native American mitochondrial and Y-chromosome haplogroups detection in routine DNA analysis. Forensic Sci Int Genet 5(2):105–108. https://doi.org/10.1016/j.fsigen.2010.08.018

    Article  CAS  PubMed  Google Scholar 

  7. Neuhuber F, Dunkelmann B, GrießnerI,Helm K, Kayser M, Ralf A (2022) Improving the differentiation of closely related males by RMplex analysis of 30 Y-STRs with high mutation rates, Forensic Sci Int Genet., 58, , 102682, ISSN 1872–4973,https://doi.org/10.1016/j.fsigen.2022.102682

  8. Buckleton J, Triggs CM, Walsh SJ (Eds) (2005). Forensic DNA interpretation. CRC Press

  9. Kayser M, Sajantila A (2001) Mutations at Y-STR loci: implications for paternity testing and forensic analysis. Forensic Sci Int. 118(23):116–21. https://doi.org/10.1016/s0379-0738(00)00480-1

    Article  CAS  PubMed  Google Scholar 

  10. Decker AE, Kline MC, Redman JW, Reid TM, Butler JM (2008) Analysis of mutations in father-son pairs with 17 Y-STR loci. Forensic Sci Int Genet. 2(3):e31-5. https://doi.org/10.1016/j.fsigen.2007.08.016

    Article  PubMed  Google Scholar 

  11. Otagiri T, Sato N, Shiozaki T, Harayama Y, Hayashi T, Kobayashi K, Asamura H (2021) Mutation analysis for 25 Y-STR markers in Japanese population. Leg Med (Tokyo). 50:101860. https://doi.org/10.1016/j.legalmed.2021.1018

    Article  CAS  PubMed  Google Scholar 

  12. Ballantyne KN, Goedbloed M, Fang R, Schaap O, Lao O, Wollstein A, Choi Y, van Duijn K, Vermeulen M, Brauer S, Decorte R, Poetsch M, von Wurmb-Schwark N, de Knijff P, Labuda D, Vézina H, Knoblauch H, Lessig R, Roewer L, Ploski R, Dobosz T, Henke L, Henke J, Furtado MR, Kayser M (2010) Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications. Am J Hum Genet 87(3):341–353. https://doi.org/10.1016/j.ajhg.2010.08.006

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Schoske R, Vallone PM, Kline MC, Redman JW, Butler JM (2004) High-throughput Y-STR typing of U.S. populations with 27 regions of the Y chromosome using two multiplex PCR assays. Forensic Sci Int. 139(2–3):107–21. https://doi.org/10.1016/j.forsciint.2003.10.007

    Article  CAS  PubMed  Google Scholar 

  14. Watahiki H, Fujii K, Fukagawa T, Mita Y, KitayamaT MN (2021) A single nucleotide substitution in the flanking region of DYS533 with low peak height. Japanese J Forensic Sci Technol 26:225–229

    Article  Google Scholar 

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Funding

This work was supported in part by grants UBACYT 20020170100721BA and PIP 2021/2023-CONICET, 11220200101523CO. A.S, M.C., and D.C. are members of the Carrera del Investigador Científico-CONICET.

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Authors and Affiliations

  1. Facultad de Farmacia y Bioquímica- Departamento de Microbiología, Inmunología, Biotecnología y Genética. Cátedra de Genética Forense y Servicio de Huellas Digitales Genéticas, Universidad de Buenos Aires, Junín 956, 1113, Ciudad Autónoma de Buenos Aires, Argentina

    A. Sala, M. Caputo & D. Corach

  2. Consejo Nacional de Investigaciones Científicas y Técnicas-CONICET, Godoy Cruz 2290, C1425FQB, Ciudad Autónoma de Buenos Aires, Argentina

    A. Sala, M. Caputo & D. Corach

Authors
  1. A. Sala
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  2. M. Caputo
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  3. D. Corach
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Contributions

Analyses were performed by MC and AS. The first draft of the manuscript was written by AS. DC performed a critical review of the first version. All authors read and approved the final manuscript.

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Correspondence to A. Sala.

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Sala, A., Caputo, M. & Corach, D. Three mutations at a Y-STR haplotype defy a paternal half-brothers kinship case analysis. Int J Legal Med 137, 1017–1022 (2023). https://doi.org/10.1007/s00414-023-03027-9

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  • DOI: https://doi.org/10.1007/s00414-023-03027-9

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