人类基因组计划进展如何，到目前为止我们了解到了什么？
How is the Human Genome Project doing, and what have we learned so far?
作者信息
Guyer M S, Collins F S
机构信息
National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892, USA.
出版信息
Proc Natl Acad Sci U S A. 1995 Nov 21;92(24):10841-8. doi: 10.1073/pnas.92.24.10841.
Abstract
In this paper, we describe the accomplishments of the initial phase of the Human Genome Project, with particular attention to the progress made toward achieving the defined goals for constructing genetic and physical maps of the human genome and determining the sequence of human DNA, identifying the complete set of human genes, and analyzing the need for adequate policies for using the information about human genetics in ways that maximize the benefits for individuals and society.
摘要
在本文中，我们描述了人类基因组计划初始阶段所取得的成就，尤其关注在实现构建人类基因组遗传图谱和物理图谱、测定人类DNA序列、识别完整的人类基因集以及分析制定适当政策以利用人类遗传学信息从而最大程度为个人和社会带来益处等既定目标方面所取得的进展。
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本文引用的文献
1
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2
A study of the origin of 'shadow bands' seen when typing dinucleotide repeat polymorphisms by the PCR.一项关于通过聚合酶链反应（PCR）检测二核苷酸重复多态性时出现的“阴影带”起源的研究。
Hum Mol Genet. 1993 Apr;2(4):411-5. doi: 10.1093/hmg/2.4.411.
3
DNA deletion associated with hereditary neuropathy with liability to pressure palsies.与遗传性压力易感性周围神经病相关的DNA缺失。
Cell. 1993 Jan 15;72(1):143-51. doi: 10.1016/0092-8674(93)90058-x.
4
dbEST--database for "expressed sequence tags".dbEST——“表达序列标签”数据库。
Nat Genet. 1993 Aug;4(4):332-3. doi: 10.1038/ng0893-332.
5
A simple and efficient method for constructing high resolution physical maps.一种构建高分辨率物理图谱的简单高效方法。
Nucleic Acids Res. 1993 Jul 25;21(15):3553-62. doi: 10.1093/nar/21.15.3553.
6
A linkage between DNA markers on the X chromosome and male sexual orientation.X染色体上的DNA标记与男性性取向之间的联系。
Science. 1993 Jul 16;261(5119):321-7. doi: 10.1126/science.8332896.
7
Report of the Fourth International Workshop on Human Chromosome 21.第四届人类21号染色体国际研讨会报告
Genomics. 1993 Dec;18(3):735-45. doi: 10.1016/s0888-7543(05)80390-8.
8
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9
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