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用于检测人类疾病基因的比较基因组学。

Comparative genomics for detecting human disease genes.

作者信息

Moreno Carol, Lazar Jozef, Jacob Howard J, Kwitek Anne E

机构信息

Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI 53226, USA.

出版信息

Adv Genet. 2008;60:655-97. doi: 10.1016/S0065-2660(07)00423-3.

DOI:10.1016/S0065-2660(07)00423-3
PMID:18358336
Abstract

Originally, comparative genomics was geared toward defining the synteny of genes between species. As the human genome project accelerated, there was an increase in the number of tools and means to make comparisons culminating in having the genomic sequence for a large number of organisms spanning the evolutionary tree. With this level of resolution and a long history of comparative biology and comparative genetics, it is now possible to use comparative genomics to build or select better animal models and to facilitate gene discovery. Comparative genomics takes advantage of the functional genetic information from other organisms, (vertebrates and invertebrates), to apply it to the study of human physiology and disease. It allows for the identification of genes and regulatory regions, and for acquiring knowledge about gene function. In this chapter, the current state of comparative genomics and the available tools are discussed in the context of developing animal model systems that reflect the clinical picture.

摘要

最初,比较基因组学旨在确定物种间基因的共线性。随着人类基因组计划的加速推进,用于进行比较的工具和方法的数量有所增加,最终获得了跨越进化树的大量生物体的基因组序列。凭借这种分辨率水平以及比较生物学和比较遗传学的悠久历史,现在利用比较基因组学构建或选择更好的动物模型并促进基因发现成为可能。比较基因组学利用来自其他生物体(脊椎动物和无脊椎动物)的功能遗传信息,将其应用于人类生理学和疾病的研究。它有助于识别基因和调控区域,并获取有关基因功能的知识。在本章中,将在开发反映临床情况的动物模型系统的背景下讨论比较基因组学的现状和可用工具。

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