DELETION SYNDROMES AS TOOLS FOR MAPPING CHROMOSOME 8

描述（改编自研究者摘要）： 这个项目是一个完整的表征部分人类 8号染色体，在分子水平上。这将通过使用 逐步缩小工作重点的战略， 染色体的区域，同时增加细节的水平， 分析每个区域。 该项目的第一个具体目标是 从人类细胞开始，构建一组人类/仓鼠杂交细胞 携带8号染色体缺失的兰格氏病患者， Giedion综合征和其他缺失综合征。 此面板将用于 将8号染色体特异性DNA探针的集合映射到 通过8号染色体特异性DNA探针的缺失来定义染色体， 由缺失端点定义的染色体区域。 混合 细胞板和映射探针的收集将是重要的资源 任何研究人员在8号染色体上绘制基因图谱。 该项目的其余部分将集中在染色体带8q24.1， 包括缺失端点的1000万至1500万个碱基对的区域 大多数朗格-吉迪翁综合征患者 探测到这个区域的 将与脉冲场凝胶技术结合使用 通过PFGE技术构建大规模限制性酶切图谱。的 探测器也将被用来表征复杂性降低的混合动力车 携带8号染色体的单个小片段亚染色体文库 将由一种复杂性降低的混合动力车生产， 与酵母人工染色体（YAC）克隆结合使用， 全人类文库的重叠克隆图的构建 8q24.1区域。 该项目的最终结果将是使一个 可供进一步研究的人类染色体的重要部分， 分子水平。

DESCRIPTION (Adapted from Investigators' Abstract): The long-term goal of this project is the complete characterization of a portion of human chromosome 8, at the molecular level. This will be accomplished using a strategy that progressively narrows the focus of the work to smaller regions of the chromosome while increasing the level of detail at which each region is analyzed. The first specific aim of this project is to construct a panel of human/hamster hybrid cells, starting with human cells carrying deletions on chromosome 8 derived from patients with Langer- Giedion syndrome and other deletion syndromes. This panel will be used to map a collection of chromosome 8 specific DNA probes to regions of the chromosome defined by the deletion of chromosome 8 specific DNA probes to regions of the chromosome defined by the deletion endpoints. The hybrid cell panel and the collection of mapped probes will be important resources for any investigators mapping genes on chromosome 8. The remainder of this project will focus in on chromosomal band 8q24.1, a region of 10 to 15 million base pairs which includes the deletion endpoints from most of the Langer-Giedion patients. The probes mapped to this region will be used in conjunction with the technique of pulsed field gel electrophoresis (PFGE) to construct a large-scale restriction map. The probes will also be used to characterize reduced-complexity hybrids carrying single, small fragments of chromosome 8. A subchromosomal library will be produced from one of the reduced complexity hybrids, and will be used in conjunction with yeast artificial chromosome (YAC) clones from a total human library in the construction of an overlapping clone map of the 8q24.1 region. The end result of this project will be to make a significant portion of a human chromosome available for further study at the molecular level.