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与遗传疾病相关的基因组印记

Genomic imprinting relevant to genetic diseases.

作者信息

Niikawa N

机构信息

Department of Human Genetics, Nagasaki University School of Medicine, Japan.

出版信息

Southeast Asian J Trop Med Public Health. 1997;28 Suppl 3:46-57.

PMID:9640600
Abstract

Genomic imprinting is a new concept proposed to explain unusual observations in early mammalian development, the occurrence of certain genetic diseases, genetic anticipation or incomplete penetrance, and tumorigenesis. The basic mechanism of the imprinting has remained obscure, although DNA-methylation, chromatin structure, and/or DNA replication may have a role. Genomic imprinting is a biological phenomenon determined by an evolutionally acquired, underlying system that may control harmonious development and growth in mammals. It is also relevant to the occurrence of some genetic disorders in man.

摘要

基因组印记是一个新提出的概念,用于解释哺乳动物早期发育中的异常现象、某些遗传疾病的发生、遗传早现或不完全外显以及肿瘤发生。尽管DNA甲基化、染色质结构和/或DNA复制可能起作用,但印记的基本机制仍不清楚。基因组印记是一种由进化获得的潜在系统决定的生物学现象,该系统可能控制哺乳动物的和谐发育和生长。它也与人类某些遗传疾病的发生有关。

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