回族儿童急性淋巴细胞性白血病患者全血DNA甲基化位点筛查及异常甲基化构建  

Screening of DNA Methylation Sites and Construction of Abnormal Methylation Profiles in Whole Blood of Hui Children with Acute Lymphoblastic Leukemia

作　　者：龚爱红 任超 王学伟[1] 史安琪 方浩 ONG Aihong;REN Chao;WANG Xuewei;SHI Anqi;FANG Hao(Medical Records Statistics Room,the General Hospital of Ningxia Medical University,Yinchuan 750004,China)

机构地区：[1]宁夏医科大学总医院病案统计室

出　　处：《宁夏医科大学学报》2019年第4期353-358,共6页Journal of Ningxia Medical University

基　　金：宁夏自然科学基金(NZ16138)

摘　　要：目的探讨宁夏地区回族急性淋巴细胞白血病(acute lymphoblastic leukemia,ALL)患儿差异性甲基化位点和异常表达的甲基化基因。方法从2016年1月-2017年10月确诊的回族患儿120例中随机抽取3例作为病例组,根据病例组患儿的性别和年龄(±1岁)与健康对照组进行1∶1匹配。采用Illumina Human Methylation 450 KBeadChip芯片对两组受试者的全血进行DNA甲基化检测,筛选异常甲基化位点。结果ALL组与对照组间比较存在12179个差异性甲基化基因。26241个差异性甲基化位点,其中高甲基化位点13714个,低甲基化位点12527个。1号染色体上差异化位点最多为2704个,其次为6号2075个,21号染色体上差异化位点最少为245个。GO富集分析结果显示,差异甲基化基因主要参与血管生成、糖代谢合成、免疫应答、细胞分化、刺激应答调节等生物学过程;Pathway分析结果显示,差异甲基化基因主要参与了免疫系统、糖基化、化学突触传导和细胞周期等。结论ALL患儿DNA甲基化状态发生改变,多个生物学过程及多条信号通路参与了回族ALL中。Objective To investigate the differentially methylated sites and abnormally expressed methylated genes in Hui children with acute lymphoblastic leukemia(ALL) in Ningxia. Methods From January 2016 to October 2017, 120 Hui children were randomly selected as case group, and matched 1∶1 with control group according to the sex and age(±1 year old). Illumina Human Methylation 450K BeadChip chip was used to detect DNA methylation in whole blood of two groups of subjects, and to screen abnormal methylation sites. Results There were 12179 differentially methylated genes in ALL group compared with control group and 26241 differentially methylated sites, including 13714 hypermethylated sites and 12527 hypomethylated sites. The most differentiated sites on chromosome 1 were 2704,followed by 2075 on chromosome 6 and 245 on chromosome 21. GO enrichment analysis showed that differentially methylated genes were mainly involved in angiogenesis, glycometabolism, immune response,cell differentiation,stimulation response regulation and other biological processes. Pathway analysis showed that differentially methylated genes were mainly involved in the immune system,glycosylation,chemical synaptic transmission and cell cycle. Conclusion DNA methylation status is changed in ALL children, and many biological processes and signaling pathways are involved in the Hui ALL.

关 键 词：儿童 急性淋巴细胞白血病 回族 DNA甲基化 

分 类 号：R733.71[医药卫生—肿瘤]