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01.09.2009 | Case Report | Ausgabe 5/2009

International Journal of Legal Medicine 5/2009

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

International Journal of Legal Medicine > Ausgabe 5/2009
Vincent Castella, Maria del Mar Lesta, Patrice Mangin
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1007/​s00414-009-0331-1) contains supplementary material, which is available to authorized users.


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.

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ESM 1 Differences at five of 18 STR loci (PowerPlex 16 and AmpFlSTR SEfiler PCR amplification kits) were observed when analyzing different samples from the same dead man. For instance, his blood DNA profile (lower part of the Figure) was characterized by loss of heterozygosity at loci D3S1358, D5S818, and CSF1PO and allele change at loci SE33 (or ACTBP2) and FGA when compared to his buccal swab DNA profile (upper part of the figure). Such genetic particularities that may occur in genetic mosaics and chimeras may severely interfere with forensic genetic applications (PDF 86 kb)
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