在许多血液恶性肿瘤中观察到表观遗传改变，包括急性髓系白血病（AML）。其中许多改变是由 DNA 甲基转移酶 (DNMT) 突变引起的，使它们无法以适当的方式甲基化目标基因。在这项病例对照研究中，我们研究了 AML 患者中 DNMT3A 基因 R882H 突变与 DDX43 基因甲基化之间的关联。本研究纳入了 47 名 AML 患者和 6 名对照者。提取DNA后，使用扩增阻滞突变系统（ARMS）-PCR评估DNMT3A基因中的R882H突变。采用高分辨率熔解（HRM）方法测定DDX43基因启动子甲基化变化。 R882H 突变仅在 10.6%（47 例中有 5 例）的 AML 患者中发现。与有 R882H 突变的患者相比，无 R882H 突变的患者 DDX43 基因甲基化频率显着较高（P < 0.05）。 DNMT3A R882H 突变通常存在于少数 AML 患者中。然而，这种突变与 DDX43 启动子区域甲基化频率降低有关。版权所有 © 2024 Tahere Tabatabaei 等人。

Epigenetic alterations have been observed in many hematological malignancies, including acute myeloid leukemia (AML). Many of these alterations result from mutations in DNA methyl transferase (DNMT) enzymes, disabling them to methylate target genes in a proper way. In this case-control study, we investigated the association between R882H mutation in DNMT3A gene and DDX43 gene methylation in patients with AML. 47 AML patients and 6 controls were included in this study. After DNA extraction, amplification refractory mutation system (ARMS)-PCR was used to evaluate R882H mutations in DNMT3A gene. The high-resolution melting (HRM) method was used to determine the methylation changes of the DDX43 gene promoter. R882H mutation was only found in 10.6% (5 out of 47) of AML patients. The frequency of DDX43 gene methylation was significantly higher in patients without R882H mutations compared to patients with R882H mutations (P < 0.05). The DNMT3A R882H mutation is typically present in a minority of AML patients. Nevertheless, this mutation is associated with a reduced frequency of methylation in the DDX43 promoter region.Copyright © 2024 Tahere Tabatabaei et al.