STR typing of skin swabs from individuals after an allogeneic hematopoietic stem cell transplantation

Abstract

One of the pre-requisites for forensic DNA analysis is the fact that all nucleated cells of a person carry the same genetic information. However, this is not the case for individuals who have received an allogeneic hematopoietic stem cell or bone marrow transplantation, as all new cells formed by the bone marrow no longer show the genetic information of the recipient but that of the donor, while all other cells still carry the original information before transplantation. Thus, STR typing of a blood sample after successful transplantation yields a DNA profile that differs from the recipient's original profile and corresponds to the donor genotype instead. Evidence from a routine case suggests that transplanted individuals may show donor alleles in skin swabs, as well. In order to examine this issue more closely, various skin swabs from 28 patients who have received an allogeneic hematopoietic stem cell transplantation were examined in this study. Swabs from the right and left palm, the back of the hand, one of the two upper arms, and the neck were collected from each person. Ninety-one of the 140 resulting swabs delivered useful results. All of those samples showed mixtures of recipient and donor DNA with different mixture ratios and the proportions of donor and recipient alleles revealed inter- and intra-individual differences. Those results were discussed with respect to graft versus host disease.

Keywords: Allogeneic hematopoietic stem cell transplantation (alloHSCT); Graft versus host disease (GvHD); Langerhans cells (LC); Molecular genetic investigation; STR typing.

Fig. 1

The figure shows a closeup on marker SE33 of electropherograms resulting from swabs of the right palm, left palm, back of the hand, upper arm and neck of patient 19. The yellow green arrows are the recipient alleles and the blue arrows are the donor alleles