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Abstract

Parentage testing, also known as relatedness testing, is largely performed using polymerase chain reaction of short tandem repeats. The situations in which relatedness testing can be useful include parentage confirmation for legal cases, or for questions related to adoption, absent parents, or immigration. Sample collection methods depend on the purpose of the testing. Interpretation of the test results focus on exclusion or the likelihood of parentage when exclusion cannot be established, which requires use of standard probability calculations. Molecular testing of genetic systems can provide information to resolve questions of relatedness. Though these tests are powerful tools that can exclude almost all falsely accused parents, the tests alone do not prove absolutely that a relationship exists between two individuals.

*In Memoriam: Herb Polesky

Herb Polesky authored this chapter in the first edition of this book and is coauthor of the chapter in this edition. Herb Polesky died in December 2011 while travelling with his wife Susan in Chile. Herb became active in the field of parentage testing early on and had the good fortune to contribute significantly to the field of Identity Testing as a whole, but especially to the application of DNA-based technology for questioned parentage. Work published by Herb and his collaborators early in the history of DNA testing is classic and moved DNA extraction methods into an era of development, culminating with the fast and efficient methods most laboratories use today. Herb also was instrumental in developing standards of practice, proficiency testing, and accreditation programs for both the American Association of Blood Banks and the College of American Pathologists. Finally, Herb was a teacher. He valued education and was always watchful for opportunities to weave the education process into an activity he was engaged in. While serving on the Histocompatibility and Identity Testing Committee of the College of American Pathologists, Herb endorsed and helped develop a Paper Challenge program which is still submitted to subscribing laboratories as part of their proficiency testing process. Challenges typically represent unusual cases that a laboratory may see occasionally and provide the pathologists and staff with a learning and teaching opportunity.

Such is the legacy Herb Polesky leaves behind for the relationship testing field and those in it who knew and worked with him. He will be missed.

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References

  1. Miale JB, Jennings ER, Rettberg WAH, et al. Joint AMA-ABA guidelines: present status of serologic testing in problems of disputed parentage. Fam Law Q. 1976;10:247–85.

    Google Scholar 

  2. Baird M, Blazas I, Guisti A, et al. Allele frequency distribution of two highly polymorphic DNA sequences in three ethnic groups and its application to the determination of paternity. Am J Hum Genet. 1986;39:489–501.

    PubMed Central  CAS  PubMed  Google Scholar 

  3. Polesky HF. Impact of molecular (DNA) testing on determination of parentage. Arch Pathol Lab Med. 1999;123:1060–2.

    CAS  PubMed  Google Scholar 

  4. Wenk RE, Traver M, Chiafari FA. Determination of sibship in any two persons. Transfusion. 1986;36:259–62.

    Article  Google Scholar 

  5. Gary JW, LiaoAnn M, GronowskiZhen Z. Non-invasive prenatal testing using cell-free fetal DNA in maternal circulation. Clin Chim Acta. 2014;428:44–5023.

    Article  Google Scholar 

  6. Ivanov PL, Gill P, Sullivan KM, et al. DNA-based identification of the last Russia’s royal family. In: Proceedings from Fourth International Symposium on Human Identification. Madison, WI: Promega Corporation; 1993. p. 37–47.

    Google Scholar 

  7. AABB. Standards for relationship testing laboratories. 7th ed. Bethesda, MD: AABB; 2005.

    Google Scholar 

  8. American Association of Blood Banks. Guidance for standards for parentage testing laboratories. 5th ed. Bethesda, MD: American Association of Blood Banks; 2002.

    Google Scholar 

  9. Polesky HF. Parentage testing: use of DNA polymorphism and other genetic markers. In: Henry JB, editor. Clinical diagnosis and management by laboratory methods. Philadelphia, PA: WB Sanders; 2001. p. 1390–401.

    Google Scholar 

  10. Budowle B, Moretti TR, Niezgoda SJ, et al. CODIS and PCR based short tandem repeat loci: law enforcement tools. In: Second European Symposium on Human Identification, 1998. Madison, WI: Promega Corporation; 1998. p. 73–88.

    Google Scholar 

  11. Allen M, Lui L, Gyllensten U. A comprehensive polymerase chain reaction oligonucleotide typing system for the HLA class I A locus. Hum Immunol. 1994;40:25–32.

    Article  CAS  PubMed  Google Scholar 

  12. Bunce M, Fanning GC, Welsh KI. Comprehensive, serologically equivalent DNA typing for HLA-B by PCR using sequence-specific primers (PCAR-SSP). Tissue Antigens. 1995;45:81–90.

    Article  CAS  PubMed  Google Scholar 

  13. Nikiforov TT, Rendle RB, Goelet P, et al. Genetic bit analysis: a solid phase method for typing single nucleotide polymorphisms. Nucleic Acids Res. 1994;22:4167–75.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  14. Roewer L. The use of the Y chromosome in forensic genetics—current practices and perspectives. In: Brinkmann B, Carracedo A, editors. Progress in forensic genetics, vol. 9. Amsterdam: Elsevier Science; 2001. p. 279–80.

    Google Scholar 

  15. Walker RH. Probability in the analysis of paternity test results. In: Silver H, editor. Paternity testing. Washington, DC: American Association of Blood Banks; 1978. p. 69–135.

    Google Scholar 

  16. Budowle B, Shea B, Niezgoda S, et al. CODIS STR loci data from 41 sample populations. J Forensic Sci. 2001;46:453–89.

    CAS  PubMed  Google Scholar 

  17. Morris JW, Garber RA, d’Autremont J, et al. The avuncular index and the incest index. In: Mayr WR, editor. Advances in forensic haemogenetics, vol. 2. Berlin: Springer; 1988. p. 607–11.

    Chapter  Google Scholar 

  18. Gjertson DW. The effect of an isolated single-locus inconsistency in the statistical evaluation of paternity. In: American Association of Blood Banks: guidance for standards for parentage testing laboratories. 5th ed. Bethesda, MD: American Association of Blood Banks; 2002. p. 143–4.

    Google Scholar 

  19. Essen-Moller E. The conclusive force of similarity in paternity proof: theoretical basis. Mitt Anthrop Ges (Wien). 1938;68:9–53.

    Google Scholar 

  20. Salmon D. The random man not excluded expression in paternity testing. In: Walker RH, editor. Inclusion probabilities in parentage testing. Arlington, VA: American Association of Blood Banks; 1983. p. 281–92.

    Google Scholar 

  21. Brenner CH. A note on paternity computation in cases lacking a mother. Transfusion. 1993;33:51–4.

    Article  CAS  PubMed  Google Scholar 

  22. Traver M. Numeric statements of the strength of the genetic evidence. In: American Association of Blood Banks: guidance for standards for parentage testing laboratories. 5th ed. Bethesda, MD: American Association of Blood Banks; 2002. p. 124–9.

    Google Scholar 

  23. Brenner CH. Symbolic kinship program. Genetics. 1997;145:535–42.

    PubMed Central  CAS  PubMed  Google Scholar 

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Correspondence to Robert W. Allen Ph.D. .

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Allen, R.W., Polesky *, H.F. (2016). Parentage and Relationship Testing. In: Leonard, D. (eds) Molecular Pathology in Clinical Practice. Springer, Cham. https://doi.org/10.1007/978-3-319-19674-9_55

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  • DOI: https://doi.org/10.1007/978-3-319-19674-9_55

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