All mixed up?—genotype change after stem cell transplantation impeded verification of 21-year-old semen sample—a case report
We report a case of identity testing in which a patient charged us with the verification of a semen sample that he had donated and cryopreserved more than 20 years ago and now was suspecting of having been inadvertently interchanged. We found a non-match of the DNA profiles of the patient’s blood and the semen samples but could show that this was due to the patient having received a stem cell transplantation of his full brother as part of a cancer therapy in 1997 which was not known to us when the samples were first tested. Also, the blood and semen samples exhibited a low probability of full sibship at first supporting the patient’s suspicion that his semen sample might indeed have been interchanged. By also testing Y-STRs and including hair roots in the DNA analysis, we could show that the transplant did indeed originate from the patient’s brother and that the semen sample did indeed originate from the patient.
KeywordsForensic genetics Forensic identification Chimerism Stem cell transplantation Case report
We would like to thank Timo Cloos for his friendly cooperation and for providing us with vital information concerning this case. The expert technical assistance of Katharina Pöhls and Stefanie Petzel is gratefully acknowledged.
Compliance with ethical standards
Informed consent and ethical approval
The patient gave written informed consent to the scientific evaluation and publication of his data, including medical history and DNA profile data. Additional informed consent was obtained from the patient to include identifying information in this article.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.
Conflict of interest
The authors declare that they have no conflict of interest.
- 5.Roewer L, Krawczak M, Willuweit S, Nagy M, Alves C, Amorim A, Anslinger K, Augustin C, Betz A, Bosch E, Cagliá A, Carracedo A, Corach D, Dekairelle AF, Dobosz T, Dupuy BM, Füredi S, Gehrig C, Gusmaõ L, Henke J, Henke L, Hidding M, Hohoff C, Hoste B, Jobling MA, Kärgel HJ, de Knijff P, Lessig R, Liebeherr E, Lorente M, Martı́nez-Jarreta B, Nievas P, Nowak M, Parson W, Pascali VL, Penacino G, Ploski R, Rolf B, Sala A, Schmitt C, Schmidt U, Schneider PM, Szibor R, Teifel-Greding J, Kayser M (2001) Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes. Forensic Sci Int 118(2–3):106–113CrossRefGoogle Scholar
- 7.Willuweit S, Anslinger K, Bäßler G, Eckert M, Fimmers R, Hohoff C et al (2018) Gemeinsame Empfehlungen der Projektgruppe “Biostatistische DNA-Berechnungen” und der Spurenkommission zur biostatistischen Bewertung von Y-chromosomalen DNA-Befunden. Rechtsmedizin 5(2):77Google Scholar