Mahasneh Amjad A, Alnegresh Faten S, Alfaqih Mahmoud A
Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid, Jordan.
Department of Physiology and Biochemistry, Jordan University of Science and Technology, Irbid, Jordan.
Asian Pac J Cancer Prev. 2021 Dec 1;22(12):4085-4094. doi: 10.31557/APJCP.2021.22.12.4085.
Several studies have revealed that chromatin modifications lead to activation or repression of multiple genes including oncogenes and tumor suppressor genes. Inactivation mutation in EZH2 gene would result in activation of oncogenes. The aim of this case-control study was to identify mutations in the EZH2 gene, to study their prevalence among Jordanian patients with colorectal adenoma and to determine how these mutations could be related to colorectal cancer (CRC) progression.
EZH2 gene sequencing was done by Sanger method for 100 DNA samples, extracted from blood of 50 patients, and 50 controls. Sequencing results were analyzed by Chromaspro and mutational effects were predicted by Mutation Taster bioinformatics tool.
Four variants were identified in Jordanian patients with adenoma; Two novel variantsc.1941T>A and c.2201G>C and two reported variants, g.73038C>T and g.75508A>C. g.73038C>T is the most common germline variant identified in this study. A significant association between the presence of c.2201G>C mutation and colorectal adenoma was found (p value < 0.05).
The present study identified several variants in EZH2 gene among Jordanians with colorectal adenoma.
多项研究表明，染色质修饰会导致包括癌基因和肿瘤抑制基因在内的多个基因的激活或抑制。EZH2基因的失活突变会导致癌基因激活。本病例对照研究的目的是鉴定EZH2基因中的突变，研究其在约旦结直肠腺瘤患者中的患病率，并确定这些突变与结直肠癌（CRC）进展的关系。
采用桑格法对从50例患者和50例对照的血液中提取的100份DNA样本进行EZH2基因测序。测序结果用Chromaspro分析，突变效应用Mutation Taster生物信息学工具预测。
在约旦腺瘤患者中鉴定出四个变异；两个新变异c.1941T>A和c.2201G>C，以及两个已报道的变异g.73038C>T和g.75508A>C。g.73038C>T是本研究中鉴定出的最常见的种系变异。发现c.2201G>C突变的存在与结直肠腺瘤之间存在显著关联（p值<0.05）。
本研究在约旦结直肠腺瘤患者中鉴定出EZH2基因的几个变异。
