Variant Study in the Introns 1 and 2 of <i>PAX5</i> Gene in the Patients With Acute Lymphoblastic Leukemia Disease
Author | Shokoufeh Yazdanparast | en |
Author | Saeid Reza Khatami | en |
Author | Hamid Galehdari | en |
Author | Ahmad Ahmadzadeh | en |
Author | Kaveh Jaseb | en |
Orcid | Hamid Galehdari [0000-0001-6281-4809] | en |
Issued Date | 2016-05-31 | en |
Abstract | 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 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. 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. | en |
DOI | https://doi.org/10.17795/zjrms-6670 | en |
Keyword | Acute Lymphoblastic Leukemia | en |
Keyword | <i>PAX5</i> Gene | en |
Keyword | B Lymphocyte | en |
Keyword | Iran | en |
Publisher | Brieflands | en |
Title | Variant Study in the Introns 1 and 2 of <i>PAX5</i> Gene in the Patients With Acute Lymphoblastic Leukemia Disease | en |
Type | Research Article | en |
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