Variant Study in the Introns 1 and 2 of PAX5 Gene in the Patients With Acute Lymphoblastic Leukemia Disease

Acute lymphoblastic leukemia (ALL) is a malignant disorder of lymphoid progenitor cells that affects both children and adults. B-lineage acute lymphoblastic leukemia (B-ALL) that derived from primary B cell precursors is a common subtype of ALL. PAX5 is a member of PAX gene family. This gene is located at 9p13.2, encoding the B-cell lineage specific activator protein (BSAP). BSAP is an essential regulator of B lymphocytes identity and function which plays an important role in part of B cell specific genes.
The aim of this study is to screen probable variants in flanking regions of introns 1 and 2 near the exons 1, 2 and 3 of PAX5 gene among B-ALL patients from Khuzestan province.
Patients and In this descriptive study, blood samples were collected from 50 patients with clinical symptoms of B-ALL in Khuzestan province. In order to identify the probable variants in introns 1 and 2 near the exons 1, 2 and 3 of PAX5 gene, flanking regions of introns amplified by PCR and the products were sequenced for any probable change.
Two variants in nine patients were identified including IVS2-43T > C and IVS2 11T > G. IVS2-43T > C variant was found as a heterozygous form in one patient and IVS2 11T > G was found as a homozygous variant in 8 patients with B-ALL.
The overall frequency of variants in intron 2 of PAX5 gene was 18%. IVS2 11T > G variant of PAX5 gene probably do not associated with B-ALL risk in the population.