《生命科学》 2008, 20(3):

基因组印记与疾病研究进展

谢小虎1,2，周文华2*

(1 宁波大学医学院行为神经科学研究中心，宁波 315211；2 宁波市微循环与莨菪类药研究所，宁波 315010)

摘　要：摘　要：基因组印记是一种特别的非孟德尔遗传现象，即来自双亲的等位基因在子代中的差异性表达，是遗传后的基因调控方式，主要与基因组甲基化模式有关，包括去甲基化、重新甲基化及甲基化维持三个过程。印记基因主要通过对启动子、边界元件及非编码RNA的作用来调控基因表达。基因组印记异常与一些先天性疾病相关，也与肿瘤发生和易感性有关。
关键词：基因组印记；甲基化；疾病
中图分类号：N344; R36　　文献标识码：A

Genomic imprinting and disease

XIE Xiao-hu1,2, ZHOU Wen-hua2*

(1Laboratory of Behavioral Neuroscience, School of Medicine, Ningbo University, Ningbo 315211, China; 2Ningbo Institute of Microcirculation and Henbane, Ningbo 315010, China)

Abstract: Abstract: Genomic imprinting is a specific non-normal Mendelian genetic phenomenon and results in the expression of those imprinted genes from only one of the two parental chromosomes in a parent-of-origin-dependent manner, which is one of the epigenetic regulations. Including three processes: the de methylation, re-methylation and the methylation maintaining, genomic imprinting is mainly related with DNA methylation pattern. Moreover, the imprinted genes regulate the genes expression largely through regulating the promoter, the boundary element and non-coding RNA.  Furthermore, aberrant imprinting genes are the cause of some congenital diseases and often associated with the susceptibility of tumor.
Key words: genomic imprinting; methylation; disease