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人类基因组的解剖学

The anatomy of the human genome.

作者信息

McKusick V A

出版信息

Am J Med. 1980 Aug;69(2):267-76. doi: 10.1016/0002-9343(80)90388-5.

Abstract

More than 350 genes have been assigned to specific chromosomes. These include more than 110 assigned to the X chromosome, more than 240 assigned to specific autosomes, and at least one assigned to the Y chromosome. (Even man's 25th chromosome, that of the mitochondrion, is being mapped). Almost all the assignments to specific autosomes were made in the last decade. About half of these were made by study of clones derived from interspecific (e.g., man-mouse) somatic cell hybrids. Over a fifth were made by family linkage studies. Chromosomes 1 and 6 are rather extensively mapped. The genes of over 40 autosomal disorders have been specifically localized. The comparative anatomy, functional anatomy, developmental anatomy and even applied anatomy of the human genome is becoming better known.

摘要

已有超过350个基因被定位到特定染色体上。其中包括110多个被定位到X染色体上、240多个被定位到特定常染色体上,以及至少一个被定位到Y染色体上。(甚至人类的第25号染色体,即线粒体染色体,也正在被绘制图谱)。几乎所有定位到特定常染色体的工作都是在过去十年中完成的。其中约一半是通过研究种间(如人-鼠)体细胞杂种衍生的克隆完成的。超过五分之一是通过家族连锁研究完成的。第1号和第6号染色体的图谱绘制得相当广泛。40多种常染色体疾病的基因已被明确定位。人类基因组的比较解剖学、功能解剖学、发育解剖学乃至应用解剖学正越来越为人所知。

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