The relationship of PRKRAP1 pseudogene in HLA-DR53 haplotypes with acute lymphoblastic leukemia

Acute Lymphoblastic Leukemia (ALL) consists of abnormally uncontrolled and excessive proliferation of lymphoblasts. Gene rearrangements, changes in chromosome number and abnormal karyotype are risk factors in ALL. In many studies Human Leukocyte Antigen (HLA)-DRB4 allele and homozygote frequency of class II gene region of HLA genes was observed that there was a high rate of male specificity in childhood ALL. In our study, it was aimed to show the relationship between ALL disease and HLA-DRB4 allele frequency and Protein Kinase, Interferon-Inducible Double Stranded RNA Dependent Activator Pseudogene 1 (PRKRAP1). In addition, in the patient and healthy group, the aim of this study was to investigate the PRKRAP1 pseudogen positivity by Polymerase Chain Reaction (PCR) and to identify Single Nucleotide Polymorphism (SNP) rs2395185 which is another marker of HLA-DRB4 haplotypes, by the real time PCR. PRKRAP1 pseudogene positivity in the whole group was shown to be specific to HLA-DRB4 haplotype. The frequency of HLA-DRB4 allele and HLA-DRB4 homozygosity were significantly higher in male patients with childhood ALL. rs2395185 was found to be specific for HLA-DRB4 haplotypes and HLA-DRB4 homozygosity in the samples was demonstrated at the level of SNP typing. In our study, an additional non-characterized DNA in the HLA-DRB4 haplotypes for HLA-DRB4 homozygosity and HLA-DRB4 marker association is considered for ALL. The molecular mechanism of PRKRAP1 pseudogene, which we defined specifically for HLA-DRB4 haplotypes, can be investigated in a specific transcription map, that can be identified in a novel, and its relationship with ALL can be determined.