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整合了细胞遗传学、遗传学和转录图谱的人类5号染色体辐射杂种图谱。

A radiation hybrid map of human chromosome 5 with integration of cytogenetic, genetic, and transcript maps.

作者信息

McPherson J D, Apostol B, Wagner-McPherson C B, Hakim S, Del Mastro R G, Aziz N, Baer E, Gonzales G, Krane M C, Markovich R, Masny P, Ortega M, Vu J, Vujicic M, Church D M, Segal A, Grady D L, Moyzis R K, Spence M A, Lovett M, Wasmuth J J

机构信息

Department of Biological Chemistry, University of California at Irvine, 92717, USA.

出版信息

Genome Res. 1997 Sep;7(9):897-909. doi: 10.1101/gr.7.9.897.

Abstract

One of the major goals of the human genome project is to establish a physical map of each human chromosome with a density of sequence-tagged site (STS) markers exceeding one every 100 kb. We report here the generation of a human chromosome 5-specific radiation hybrid (RH) map that includes 556 markers. Of these markers, 132 loci are ordered with a maximum likelihood ratio of >1000:1 compared with the next most likely order. An additional 113 loci were ordered relative to these backbone markers with a maximum likelihood ratio of >10:1 but <1000:1. Together, these 245 loci form an ordered framework map for the chromosome. Using this framework, >300 more markers were localized based on two-point analysis with the ordered set. On average, there are 50 markers in common with the RH map presented here and other chromosome 5 maps included in the current whole genome cytogenetic, genetic, and physical maps. The accuracy of all the maps is evident in that there are no more than two discrepancies between any one of them and these data. All of the maps encompassing chromosome 5 complement each other providing excellent STS coverage with >2200 loci combined. The chromosome 5-specific RH map contains 20% of these independent loci. In addition, our RH map contains STSs derived from clones suitable for fluorescent in situ hybridization, allowing alignment to the cytogenetic map. Together, these maps will assist in the assembly of sequence-ready contigs and will aid in the identification of disease loci on chromosome 5 by positional cloning and positional candidate approaches.

摘要

人类基因组计划的主要目标之一是建立每个人类染色体的物理图谱,其序列标签位点(STS)标记的密度超过每100 kb一个。我们在此报告生成了一张人类5号染色体特异性辐射杂种(RH)图谱,其中包含556个标记。在这些标记中,有132个位点的排序与第二可能的排序相比,最大似然比大于1000:1。另外113个位点相对于这些主干标记进行了排序,最大似然比大于10:1但小于1000:1。这245个位点共同构成了该染色体的有序框架图谱。利用这个框架,基于与有序集合的两点分析又定位了300多个标记。平均而言,此处呈现的RH图谱与当前全基因组细胞遗传学、遗传学和物理图谱中包含的其他5号染色体图谱有50个共同标记。所有图谱的准确性很明显,因为它们中的任何一个与这些数据之间的差异都不超过两个。所有涵盖5号染色体的图谱相互补充,总共提供了超过2200个位点的出色STS覆盖。5号染色体特异性RH图谱包含这些独立位点的20%。此外,我们的RH图谱包含源自适合荧光原位杂交克隆的STS,从而能够与细胞遗传学图谱对齐。这些图谱共同将有助于序列就绪重叠群的组装,并将通过定位克隆和定位候选方法帮助识别5号染色体上的疾病位点。

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