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Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis

机译:基于拷贝数分析鉴定小儿急性淋巴细胞白血病新遗传改变

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Copy number variations (CNVs) analysis may reveal molecular biomarkers and provide information on the pathogenesis of acute lymphoblastic leukemia (ALL). We investigated the gene copy number in childhood ALL by microarray and select three new recurrent CNVs to evaluate by real-time PCR assay: DMBT1, KIAA0125 and PRDM16 were selected due to high frequency of CNVs in ALL samples and based on their potential biological functions in carcinogenesis described in the literature. DBMT1 deletion was associated with patients with chromosomal translocations and is a potential tumor suppressor; KIAA0125 and PRDM16 may act as an oncogene despite having a paradoxical behavior in carcinogenesis. This study reinforces that microarrays/aCGH is it is a powerful tool for detection of genomic aberrations, which may be used in the risk stratification.? The Author(s) 2020.
机译:拷贝数变异(CNV)分析可能揭示分子生物标志物,并提供有关急性淋巴细胞白血病(全部)发病机制的信息。我们通过微阵列研究了儿童时期的基因拷贝数,并选择三种新的复发性CNV,以通过实时PCR测定评估:由于所有样品中的CNV频率高,因此选择了DMBT1,KIAA0125和PRDM16,并基于其潜在的生物功能来选择。文献中描述的致癌作用。 DBMT1缺失与染色体易位性患者有关,并且是潜在的肿瘤抑制剂;尽管在致癌物中具有矛盾行为,但KiaA0125和PRDM16可以作为癌基因。本研究强化了微阵列/ ACGH是一种用于检测基因组像差的强大工具,其可用于风险分层。作者2020年。

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