[Analysis of loss of heterozygosity at HLA loci in a patient with leukemia].

OBJECTIVE

To detect loss of heterozygosity (LOH) at human leukocyte antigen (HLA) loci in a Chinese patient with leukemia after haploidentical hematopoietic stem cell transplantation.

METHODS

HLA genotyping was carried out on peripheral blood, hair follicle and buccal swab samples derived from the patient after the transplantation as well as peripheral blood samples from his parents by using PCR-sequence specific oligonucleotide probe method and PCR-sequence based typing method. Short tandem repeat (STR) loci were detected by using a 23 site STR assay kit and a self-developed 6 STR loci assay for the HLA regions.

RESULTS

After the transplantation, the HLA genotype of the peripheral blood sample of the patient was identical to his father. The patient was HLA-A02:01,24:02, C03:03,03:04, B13:01,15:01, DRB108:03,12:02, DQB103:01,06:01 for his hair follicle specimen. However, homozygosity of the HLA loci was found in his buccal swab sample. Only the HLA-A24:02-C03:03-B15:01-DRB108:03-DQB106:01 haplotype from his father's was present, while the HLA-A02:01-C03:04-B13:01-DRB112:02-DQB1*03:01 haplotype from his mother was lost. After the transplantation, the alleles of the 23 STR sites in the patient's peripheral blood sample were consistent to his father, with no allelic loss detected in his buccal swab sample. However, at least 4 STR loci in the HLA region were lost in his buccal swab sample.

CONCLUSION

LOH at the HLA loci has been detected in the buccal swab sample of a patient with leukemia who received haploidentical hematopoietic stem cell transplantation.