CAJ | 학술논문

单核苷酸多态性(single nucleotide polymorphism,SNP)作为第三代遗传标记,分布广泛、数目多且相对稳定地存在于人类染色体上,在肿瘤发病相关性的研究方面日益受到重视.阐明其意义将有助于肿瘤易感人群的确定、发病风险的评估及早期诊断等.DNA甲基化作用是机体发育过程中重要的表遗传修饰,由一组DNA甲基转移酶(DNA methyltansferases,DNMTs)介导,肿瘤细胞中表现为基因组整体水平的低甲基化和某些基因启动子区CpG岛的高甲基化等,同时DNMTs也存在异常表达的现象.DNMTs的3个家族DNMTI、DNMT2、DNMT3在甲基化过程中发挥重要的作用.而SNP可使酶功能存在个体差异,从而使得个体对环境致癌物的反应存在个体差异,对肿瘤的反应也存在差异.此文综述了DNMTs SNP位点与肿瘤发病风险相关性研究进展.
단핵감산다태성(single nucleotide polymorphism,SNP)작위제삼대유전표기,분포엄범、수목다차상대은정지존재우인류염색체상,재종류발병상관성적연구방면일익수도중시.천명기의의장유조우종류역감인군적학정、발병풍험적평고급조기진단등.DNA갑기화작용시궤체발육과정중중요적표유전수식,유일조DNA갑기전이매(DNA methyltansferases,DNMTs)개도,종류세포중표현위기인조정체수평적저갑기화화모사기인계동자구CpG도적고갑기화등,동시DNMTs야존재이상표체적현상.DNMTs적3개가족DNMTI、DNMT2、DNMT3재갑기화과정중발휘중요적작용.이SNP가사매공능존재개체차이,종이사득개체대배경치암물적반응존재개체차이,대종류적반응야존재차이.차문종술료DNMTs SNP위점여종류발병풍험상관성연구진전.
Single nucleotide polymorphism(SNP)exists in human genome widely and stably,it is regarded as thethird genetic marker and is increasingly recognized in tumor relativity research area.It helps to evaluate the susceptibility and diagnosis of diseases.DNA methylation mediated by DNA methyltransferases is a major epigenetic mechanism.Many tumor ceils have both hypomethylation in global genome and promoter hypermethylation of CpG islands in individual gene.The present paper reviews the research advancement between DNA methyltransferase SNPs and the tumor risk.