m6A-SNPs及其在复杂疾病分子遗传学研究中的应用  

m6A-SNPs and its application in molecular genetics of complex diseases

作　　者：杨祎 孙文靖[1,2] 张学龙 Yang Yi;Sun Wenjing;Zhang Xuelong(Laboratory of Medical Genetics,Harbin Medical University,Harbin 150081,China;Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China(Harbin Medical University),Ministry of Education,Harbin 150081,China)

机构地区：[1]哈尔滨医科大学医学遗传学研究室,哈尔滨150081 [2]中国遗传资源保护与疾病防控教育部重点实验室(哈尔滨医科大学),哈尔滨150081

出　　处：《国际免疫学杂志》2023年第2期169-175,共7页International Journal of Immunology

基　　金：国家自然科学基金(81373220);哈尔滨医科大学少帅揭榜项目(HMUMIF-21007)。

摘　　要：N6-甲基腺苷(N6-methyladenosine,m6A)是真核生物mRNA最常见的一种转录后修饰,在多种生物过程中具有关键作用。有研究表明单核苷酸多态性(single nucleotide polymorphism,SNP)可以通过改变靶基因基序影响其m6A修饰,进而对疾病的发生发展产生影响。随着高通量测序技术的不断发展,越来越多的可能影响m6A修饰的SNPs(m6A-SNPs)被鉴定出来。文章主要就m6A-SNPs在复杂疾病分子遗传学研究中的进展进行综述。N6-methyladenosine(m6A)is the most common post-transcriptional modification of eukaryotic mRNA and plays a key role in a variety of biological processes.Studies have shown that single nucleotide polymorphism(SNP)can affect m6A modification by changing the target gene motif,and thus affect the occurrence and development of diseases.With the development of high-throughput sequencing technology,more and more SNPs that may affect m6A modification(m6A-SNPs)have been identified.This article mainly reviews the research progress of m6A-SNPs in complex diseases.

关 键 词：N6-甲基腺苷 RNA修饰 复杂疾病 单核苷酸多态性 RMVar 

分 类 号：R394[医药卫生—医学遗传学]