DNA 修复基因多态性与儿童急性淋巴细胞白血病的关联：高分辨率熔解分析。
Association of DNA repair genes polymorphisms with childhood acute lymphoblastic leukemia: a high-resolution melting analysis.
机构信息
Department of Hematology and Medical Laboratory Sciences, Faculty of Allied Medicine, Kerman University of Medical Sciences, Kerman, Iran.
Cell Therapy and Regenerative Medicine Comprehensive Center, Kerman University of Medical Sciences, Kerman, Iran.
出版信息
BMC Res Notes. 2022 Feb 14;15(1):46. doi: 10.1186/s13104-022-05918-3.
OBJECTIVE
Acute lymphoblastic leukemia (ALL) is one of the most common cancers in children for which the exact pathogenesis is not yet known. Single-nucleotide variants (SNVs) in different DNA repair genes are reported to be associated with ALL risk. This study aimed to determine the association between XRCC1 (rs1799782) and NBN (rs1805794, rs709816) SNVs and childhood ALL risk in a sample of the Iranian population. Fifty children with ALL and 50 age- and sex-matched healthy children were included in this case-control study. Genotyping of the mentioned SNVs was done by high-resolution melting (HRM) analysis.
RESULTS
The prevalence of all three SNVs in XRCC1 and NBN genes did not differ between the patient and control groups, and these polymorphisms were not associated with childhood ALL risk (P > 0.05). HRM was a practical method for the detection of SNVs in XRCC1 and NBN genes. We found no significant association between XRCC1 (rs1799782) and NBN (rs1805794, rs709816) SNVs and childhood ALL risk.
目的
急性淋巴细胞白血病（ALL）是儿童中最常见的癌症之一，但其确切发病机制尚不清楚。据报道，不同 DNA 修复基因中的单核苷酸变异（SNVs）与 ALL 风险相关。本研究旨在确定伊朗人群样本中 XRCC1（rs1799782）和 NBN（rs1805794、rs709816）SNVs 与儿童 ALL 风险之间的关联。
方法
在这项病例对照研究中，纳入了 50 名 ALL 患儿和 50 名年龄和性别匹配的健康儿童。采用高分辨率熔解（HRM）分析对上述 SNVs 进行基因分型。
结果
XRCC1 和 NBN 基因中所有三种 SNVs 在患者和对照组中的发生率无差异，这些多态性与儿童 ALL 风险无关（P＞0.05）。HRM 是检测 XRCC1 和 NBN 基因 SNVs 的实用方法。我们未发现 XRCC1（rs1799782）和 NBN（rs1805794、rs709816）SNVs 与儿童 ALL 风险之间存在显著关联。
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