期刊
GENETICS AND MOLECULAR RESEARCH
卷 14, 期 4, 页码 17768-17775出版社
FUNPEC-EDITORA
DOI: 10.4238/2015.December.22.1
关键词
Acute lymphoblastic leukemia; PAX5; Missense mutation; Exon 2; Iran
资金
- Shahid Chamran University [867615]
The PAX5 gene, which encodes the B-cell specific activator protein, is one of the most important factors in determination of B-cell development. This gene is the main target of somatic mutations in acute B lymphoblastic leukemia (B-ALL). For example, point mutations, deletions, as well as other gene rearrangements may lead to several forms of B-cell malignancy. In this study, we obtained 50 blood samples from patients diagnosed with ALL, and screened for PAX5 mutations using sequencing in exons 1, 2 and 3. We found a heterozygous germline variant, c. 113G>A (p. Arg38His), which affects the paired domain of PAX5. It seems that this mutation is pathogenic, but is recessive. Our findings suggest that this mutation in a single allele of the PAX5 gene is not sufficient to cause disease, and it is possible that other alleles are also involved in the onset of B-ALL.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据