血液系统恶性肿瘤致ABO基因甲基化状态异常的影响及分析  

Impact and analysis of aberrant ABO methylation status in hematologic malignancies

作　　者：李茜 张智慧 高力立 彭沫溱 赵梓昕 陈璐[1] 寸伟[1] 罗臻[1] LI Qian;ZHANG Zhihui;GAO Lili;PENG Mozhen;ZHAO Zixin;CHEN Lu;CUN Wei;LUO Zhen(Department of Transfusion Research,Yunnan Kunming Blood Center,Kunming,Yunnan 650106,China)

机构地区：[1]云南昆明血液中心输血研究室,云南昆明650106

出　　处：《国际检验医学杂志》2024年第S01期27-34,共8页International Journal of Laboratory Medicine

基　　金：云南省临床医学中心分中心开放基金项目(2020LCZXKF-XY19)。

摘　　要：目的检测血液系统恶性肿瘤患者和健康献血员ABO基因启动子区CpG岛甲基化状态,分析ABO基因甲基化与血液系统恶性肿瘤的相关性,初步探讨ABO基因甲基化状态异常在血液系统恶性肿瘤中的临床意义。方法收集2020年7月至2023年3期间送检至血液中心6例血液系统恶性肿瘤患者标本和20例健康献血员标本作为研究对象。应用血型血清学技术检测ABO血型抗原情况,应用亚硫酸氢盐测序法(BSP)检测ABO基因启动子CpG岛甲基化状态。结果血液系统恶性肿瘤患者中有2例出现ABO抗原减弱,而健康对照组均未检测出ABO抗原减弱现象;经亚硫酸氢盐转化测序法检测病例组(n=6)和对照组(n=20)标本ABO基因甲基化状态,发现血液系统恶性肿瘤患者(甲基化率73.08%)ABO基因甲基化率显著高于随机选取的对照组样本(甲基化率38.08%),差异有统计学意义(P<0.001)。结论罹患血液系统恶性肿瘤与ABO血型抗原减弱相关联,且ABO基因启动子区CpG岛甲基化与血液系统恶性肿瘤的发生相关,这为探索血液系统恶性肿瘤ABO血型抗原减弱的分子机理提供了理论依据。Objective To detect the methylation status of CpG islands in the promoter region of ABO gene in patients with hematological malignancies and healthy blood donors,analyze the correlation between the methylation status of ABO gene and hematological malignancies,and and preliminarily explore the clinical sig-nificance of abnormal methylation status of ABO gene in hematological malignancies.Methods Six specimens from patients with hematological malignancies sent to the blood center between July 2020 and March 2023 and 20 specimens from healthy blood donors were collected as research subjects.ABO blood group antigens were determined by blood group serology,and the methylation status of CpG islands in the promoter of ABO gene was determined by bisulfite sequencing PCR(BSP).Results ABO antigen attenuation was present in 2 pa-tients with hematologic malignancies and in none of the healthy controls tested;The methylation status of ABO in case(n=6)and control(n=20)samples was assessed by bisulfite conversion sequencing,which re-vealed that the methylation rate of ABO was significantly higher in patients with hematological malignancies(methylation rate 73.08%)than in randomly selected control samples(methylation rate 38.08%),and the difference was statistically significant(P<0.001).Conclusion The association of developing hematologic malignancies with attenuated ABO blood group antigens and the association of CpG island methylation in the promoter region of ABO gene with the development of hematologic malignancies provide a rationale for explo-ring the molecular mechanism of the attenuation of ABO blood group antigens in hematologic malignancies.

关 键 词：血液系统恶性肿瘤 ABO基因 DNA甲基化 CPG岛 血型抗原 

分 类 号：R446[医药卫生—诊断学] R73[医药卫生—临床医学]