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用于评估mir-612(Rs12803915)基因变异与小儿急性淋巴细胞白血病易感性的高分辨率熔解分析

High Resolution Melting Analysis for Evaluation of mir-612 (Rs12803915) Genetic Variant with Susceptibility to Pediatric Acute Lymphoblastic Leukemia.

作者信息

Siyadat Payam, Ayatollahi Hossein, Barati Mahmood, Sheikhi Maryam, Shahidi Minoo

机构信息

Department of Hematology, School of Allied Medical Sciences, Iran University of Medical Sciences, Tehran, Iran.

Cancer Molecular Pathology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.

出版信息

Rep Biochem Mol Biol. 2021 Jan;9(4):385-393. doi: 10.52547/rbmb.9.4.385.

DOI:10.52547/rbmb.9.4.385
PMID:33969131
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8068442/
Abstract

BACKGROUND

Acute lymphoblastic leukemia (ALL) is a highly heterogeneous malignancy that accounts for nearly 75% of leukemias in children. While the exact mechanism of ALL is not fully understood, some genetic variants have been implicated as associated with ALL susceptibility. The association between some genetic variants in miRNA genes and ALL risk has been described previously. A previous study suggested that mir-612 rs12803915 G> A may be associated with pediatric ALL risk. High-resolution melting (HRM) analysis is a reliable method that can be applied for polymorphism detection.

METHODS

This retrospective study was performed on 100 B-ALL patients (52 males and 48 females; age 4.6 ± 3.2 years) and 105 age- and sex-matched healthy controls (48 males and 57 females; age 5.1 ± 3 years). We used HRM to identify mir-612 rs12803915 genotypes. Sanger sequencing was applied to validate the HRM results.

RESULTS

High resolution melting analysis was used to genotype the mir-612 rs12803915 polymorphism. We found no association between rs12803915 allele A and B-ALL risk in any inheritance models (p> 0.05).

CONCLUSION

HRM is a suitable method to detect SNP rs12803915 in the mir-612 gene; however, we found no significant association between the rs12803915 polymorphism and ALL risk.

摘要

背景

急性淋巴细胞白血病(ALL)是一种高度异质性的恶性肿瘤,占儿童白血病的近75%。虽然ALL的确切发病机制尚未完全明确,但一些基因变异被认为与ALL易感性有关。此前已有关于某些微小RNA(miRNA)基因中的基因变异与ALL风险之间关联的报道。一项先前的研究表明,mir-612 rs12803915 G>A可能与儿童ALL风险相关。高分辨率熔解(HRM)分析是一种可用于多态性检测的可靠方法。

方法

本回顾性研究纳入了100例B-ALL患者(52例男性,48例女性;年龄4.6±3.2岁)和105例年龄及性别匹配的健康对照(48例男性,57例女性;年龄5.1±3岁)。我们使用HRM来鉴定mir-612 rs12803915的基因型。采用桑格测序法验证HRM结果。

结果

利用高分辨率熔解分析对mir-612 rs12803915多态性进行基因分型。我们发现在任何遗传模型中,rs12803915等位基因A与B-ALL风险之间均无关联(p>0.05)。

结论

HRM是检测mir-612基因中SNP rs12803915的合适方法;然而,我们发现rs12803915多态性与ALL风险之间无显著关联。

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