An overview of the human genome project
An overview of the human genome project
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人类基因组计划概述
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发表时间：
1994
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通讯作者：
M. Batzer
中科院分区：
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作者：
M. Batzer
人类基因组计划是迄今为止最雄心勃勃的科学计划之一，其最终目标是为人类DNA的所有40亿个碱基确定核苷酸序列。在确定每个碱基的核苷酸序列的过程中，将从估计的100，000个人类基因中鉴定位置、功能和调控区域。基因组计划本身依赖于从几个不同分辨率水平获得的人类遗传密码图。遗传连锁分析提供低分辨率基因组图谱。遗传连锁图的信息来源于染色体特异性标记的分析，例如序列标记位点（STS）、可变串联重复数（VNTR）或许多不同家族中的其他多态性（高信息量）基因座。利用这些信息，未知疾病基因的位置可以被限制在由100万个碱基对或更少的DNA组成的区域内，之后，必须构建或访问感兴趣区域的物理图谱。物理作图涉及构建一组有序重叠（连续）的重组DNA克隆。这些克隆可以来源于许多不同的载体，包括酵母、细菌人工染色体（BAC）、P1衍生的人工染色体（PAC）、体细胞杂交体或酵母人工染色体（YAC）。物理作图的最终目标是为整个基因组建立一组完全重叠（连续）的克隆。在使用物理作图定位感兴趣的基因或区域之后，确定核苷酸序列。遗传图谱、物理图谱和DNA测序之间的重叠已被证明是通过定位克隆分离疾病基因的有力工具。«少
The human genome project is one of the most ambitious scientific projects to date, with the ultimate goal being a nucleotide sequence for all four billion bases of human DNA. In the process of determining the nucleotide sequence for each base, the location, function, and regulatory regions from the estimated 100,000 human genes will be identified. The genome project itself relies upon maps of the human genetic code derived from several different levels of resolution. Genetic linkage analysis provides a low resolution genome map. The information for genetic linkage maps is derived from the analysis of chromosome specific markers such as Sequence Tagged Sites (STSs), Variable Number of Tandem Repeats (VNTRs) or other polymorphic (highly informative) loci in a number of different-families. Using this information the location of an unknown disease gene can be limited to a region comprised of one million base pairs of DNA or less. After this point, one must construct or have access to a physical map of the region of interest. Physical mapping involves the construction of an ordered overlapping (contiguous) set of recombinant DNA clones. These clones may be derived from a number of different vectors including cosmids, Bacterial Artificial Chromosomes (BACs), P1 derivedmore » Artificial Chromosomes (PACs), somatic cell hybrids, or Yeast Artificial Chromosomes (YACs). The ultimate goal for physical mapping is to establish a completely overlapping (contiguous) set of clones for the entire genome. After a gene or region of interest has been localized using physical mapping the nucleotide sequence is determined. The overlap between genetic mapping, physical mapping and DNA sequencing has proven to be a powerful tool for the isolation of disease genes through positional cloning.« less