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[人类基因组物理图谱的第一代]

[First generation of the physical map of the human genome].

作者信息

Cohen D, Chumakov I, Weissenbach J

机构信息

Foundation Dausset-CEPH, Paris, France.

出版信息

C R Acad Sci III. 1993 Dec;316(12):1484-8.

PMID:8087626
Abstract

Sets of ordered overlapping cloned genomic fragments, spanning each of the human chromosomes are urgently needed for identification of human disease genes. Such a physical map provides also a unique source of material to study structure and function of the genome. To achieve this goal we exhaustively analyzed the CEPH yeast artificial chromosome (YAC) library containing 33,000 clones, which insert sizes were individually measured. With 0.9 Mb average lengths these YACs cover an equivalent of 10 haploid genomes. Then, several mapping techniques were combined to generate multiple structural information for most of these clones. Finally, the library was screened with more than 2,000 genetic markers quasi-uniformly distributed along 90% of the genome. These results should allow the scientific community to construct detailed chromosomic maps. Moreover, we propose a data analysis strategy that produces a first generation integrated map covering most of the human genome.

摘要

为了鉴定人类疾病基因,迫切需要一系列有序重叠的克隆基因组片段,这些片段要覆盖每一条人类染色体。这样的物理图谱也为研究基因组的结构和功能提供了独特的材料来源。为了实现这一目标,我们详尽地分析了CEPH酵母人工染色体(YAC)文库,该文库包含33,000个克隆,每个克隆的插入片段大小都已单独测量。这些YAC平均长度为0.9 Mb,覆盖了相当于10个单倍体基因组的范围。然后,结合了几种作图技术,为大多数这些克隆生成多种结构信息。最后,用2000多个几乎均匀分布在90%基因组上的遗传标记对文库进行筛选。这些结果应能使科学界构建详细的染色体图谱。此外,我们提出了一种数据分析策略,该策略可产生覆盖大部分人类基因组的第一代综合图谱。

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