variant study in the introns 1 and 2 of pax5 gene in the patients with acute lymphoblastic leukemia disease

Background: 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 acommonsubtype 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. objectives: 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 methods: 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. results: 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. conclusions: 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.