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基因组学与人类基因组计划:对精神病学的影响

Genomics and the Human Genome Project: implications for psychiatry.

作者信息

Kelsoe John R

机构信息

Department of Psychiatry, University of California, San Diego, La Jolla 02093, USA.

出版信息

Int Rev Psychiatry. 2004 Nov;16(4):294-300. doi: 10.1080/09540260400014385.

Abstract

In the past decade the Human Genome Project has made extraordinary strides in understanding of fundamental human genetics. The complete human genetic sequence has been determined, and the chromosomal location of almost all human genes identified. Presently, a large international consortium, the HapMap Project, is working to identify a large portion of genetic variation in different human populations and the structure and relationship of these variants to each other. The Human Genome Project has approached human genetics on a scale not previously seen in biology. This has been made possible by dramatic advances in high throughput technology and bio-informatics. Tools such as gene chips and micro-arrays have spawned an entirely new strategy to examine the function and expression of genes in a massively parallel fashion. Together these tools have dramatically advanced our knowledge about the human genome. They promise powerful new approaches to complex genetic traits such as psychiatric illness. The goals and progress of the Human Genome Project and the technology involved are reviewed. The implications of this science for psychiatric genetics are discussed.

摘要

在过去十年中,人类基因组计划在理解人类基本遗传学方面取得了非凡进展。完整的人类基因序列已被确定,几乎所有人类基因的染色体定位也已明确。目前,一个大型国际合作项目——国际人类基因组单体型图计划(HapMap计划)正在努力识别不同人群中很大一部分的基因变异,以及这些变异之间的结构和相互关系。人类基因组计划对人类遗传学的研究规模是生物学领域前所未有的。这得益于高通量技术和生物信息学的巨大进步。诸如基因芯片和微阵列等工具催生了一种全新的策略,能够以大规模并行的方式研究基因的功能和表达。这些工具共同极大地推进了我们对人类基因组的认识。它们为诸如精神疾病等复杂遗传性状提供了强大的新研究方法。本文将回顾人类基因组计划的目标、进展以及所涉及的技术,并讨论这一科学领域对精神遗传学的意义。

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