Objective: Acute Lymphoblastic Leukemia (ALL) consists of excessive proliferation of lymphoblasts. The frequency of Human Leukocyte Antigen (HLA)-DR53 (DRB4) homozygosity and allele was found to be higher in male childhood ALL cases. The aim of this study was to identify the HLA-DR53 allele frequency; interferon-inducing double chain ribonucleic acid binding protein kinase A pseudogene 1 (PRKRAP1) positivity; rs2395185 allele and genotype frequencies in ALL patients.
Materials and Methods: Sixty ALL patients and 40 healthy controls were studied. HLA’s were analyzed using the PCR-SSP. The PRKRAP1 positivity have been identified by PCR and rs2395185 genotypes were determined by TaqMan assay using real-time PCR.
Results: PRKRAP1 positivity was shown to be specific to HLA-DRB4 haplotype in the whole group. We observed that HLA-DRB1*04, DRB1*07 alleles were higher in male patients (43.5%, 25.0%) compared with female patients (25.0%, 21.4%). The prevalence of rs2395185 T allele, HLA-DRB4 allele and HLA-DRB4 homozygous in childhood ALL patients were significantly higher in males compared with the females (p:0.044, p:0.007, p:0.045, respectively).
Conclusion: The molecular mechanism of PRKRAP1 pseudogenesis, which we have confirmed to be specific for HLA-DRB4 (DR53) haplotypes, in a newly identified specific transcription map can be investigated and its relationship with ALL can be determined.
Acute lymphoblastic leukemia, HLA-DR53, HLA-DRB4, PRKRAP1, Genetic polymorphism, Genotype frequencies, Pseudogenesis