Genetic investigation of biological materials from patients after stem cell transplantation based on autosomal as well as Y-chromosomal markers

Abstract

The authors presented the results of DNA polymorphism investigation of blood, buccal swabs and hair follicles originating from patients after allogeneic hematopoietic stem cell transplantation. The real-time and multiplex assays based on polymerase chain reaction within the range of autosomal as well as Y-chromosomal markers were applied to assess the possible dangers arising from investigation of these materials in forensic genetics. The results revealed that not only post-transplant blood and buccal swab, but also recipient hair, up to now regarded as devoid of any donor’s cells, do not constitute entirely safe material for forensic purposes. Their analysis can lead to the false identification of gender or male haplotype. The investigation of sex-determining region Y and Y-chromosome short tandem repeats performed in female recipients with male donors resulted in the designation of donor’s DNA in hair cells as well as in blood and buccal swabs. Therefore, biological stains gathered from crime scenes should not be analysed exclusively based on the investigation of male-specific markers.Electronic supplementary materialThe online version of this article (doi:10.1007/s00414-012-0771-x) contains supplementary material, which is available to authorized users.

Chimerism in Humans after Bone Marrow Transplantation: A New Challenge for Forensic DNA Experts

“…They observed complete donor chimerism in hair samples of recipients [12]. Similar type of results were again reported by Jacewicz et al [13], with the increase in the number of samples analyzed (32 patients) and donor chimerism was observed in hair samples of recipients of Allo-HSCT.…”

Fetal RHD genotyping after bone marrow transplantation

“…Donor DNA can be detected in buccal swabs even after exclusion of hematopoietic cells and thus suggesting formation of donor‐derived epithelial cells after hematopoietic transplantation . Donor‐derived cells have also been detected in other tissues such as fingernails, hair follicles, hepatocytes, colon epithelium and white adipose tissue . Because of the sex mismatch in our case the percentage of donor‐derived cells was easily established and RHD zygosity could be determined in the pregnant woman.…”

DNA profiling in peripheral blood, buccal swabs, hair follicles and semen from a patient following allogeneic hematopoietic stem cells transplantation

“…The profiles indicated a mixture of the recipient and donor patterns in the buccal swab, the full donor pattern in the blood sample, and the full recipient profile in the hair follicle and sperm samples. However, previous studies revealed the Y-STR haplotype from the donor in all the post-transplant blood and buccal swab samples, and even in post-transplant hair follicle samples obtained from female patients following gender-mismatched engraftment (11,13). A previous study has already demonstrated that an extremely small quantity of male material in mixed male/female DNA samples can be detected by analysis with the Y-STR system (18).…”

“…Forensic scientists use DNA from various biological samples found at crime scenes to identify the criminal suspect by DNA profiling. Different types of DNA material have the ability to undergo a DNA match based on a hypothesis that all the cells in the human body have a consistent DNA profile (11).…”