摘要
哺乳類包含的基因，除了性染色體上的基因外，其餘常染色體(autosomes)上的基因都是成對的。就大部分的常染色體基因而言，遺傳自母親的對偶基因(allele)及遺傳自父親的對偶基因，其基因表現並無差別；然而在少數的常染色體基因，只有來自母親的對偶基因或只有來自父親的對偶基因才會表現，這種存在於哺乳類的正常現象稱為基因銘記(genomic imprinting)。基因銘記的正常調控不在於去氧核糖核酸，而是在於加諸其上的各種變化，例如去氧核糖核酸甲基化，所以基因銘記屬於基因外遺傳現象(epigenetics)。基因銘記在胚胎發育及行為發展過程中占有重要的角色，因此當正常的基因銘記遭到破壞時，會影響這些過程，很多遺傳疾病因此產生。本篇文章討論基因銘記及相關的人類遺傳疾病，藉由研究這些遺傳疾病的異常基因銘記，應能使我們對基因外遺傳現象有更多的了解。
並列摘要
While most autosomal genes are expressed from both alleles, there is a subset of genes in which only the maternal or paternal allele is expressed. This phenomenon of monoallelic, parental-origin-specific expression of genes in mammals is termed genomic imprinting. Genomic imprinting is believed to be mediated by an epigenetic process that marks maternal and paternal chromosomes. Imprinted genes are normally involved in fetal growth and behavioral development. Consequently, aberrant imprinting disturbs development and is the cause of numerous genetic disorders. This paper reviews genomic imprinting and its role in human genetic disease. Investigations into the mechanisms of imprinting dysregulation in these genetic disorders will provide new insights into epigenetic gene regulation during development.