Institute of Legal Medicine, Ludwig-Maximilians-University, Nußbaumstr. 26, 80336, Munich, Germany.
Department of Internal Medicine I, Klinikum Bad Trissl, Oberaudorf, Germany.
Int J Legal Med. 2023 Jan;137(1):227-236. doi: 10.1007/s00414-022-02847-5. Epub 2022 Jun 3.
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.
法医 DNA 分析的一个前提条件是，每个人的所有有核细胞都携带相同的遗传信息。然而，对于接受同种异体造血干细胞或骨髓移植的个体来说并非如此，因为骨髓形成的所有新细胞不再显示受体的遗传信息，而是供体的遗传信息，而所有其他细胞在移植前仍然携带原始信息。因此，成功移植后血液样本的 STR 分型产生的 DNA 图谱与受体的原始图谱不同，而是与供体基因型相对应。来自常规案例的证据表明，移植个体的皮肤拭子也可能显示供体等位基因。为了更仔细地研究这个问题，本研究检查了 28 名接受同种异体造血干细胞移植的患者的各种皮肤拭子。从每个人的右手和左手掌、手背、两个上臂中的一个以及颈部采集拭子。140 个拭子中有 91 个产生了有用的结果。所有这些样本均显示受体和供体 DNA 的混合物，具有不同的混合比例，并且供体和受体等位基因的比例显示出个体间和个体内的差异。这些结果与移植物抗宿主病进行了讨论。
