DELETION ANALYSIS OF THE SHORT ARM OF CHROMOSOME 5

5号染色体短臂(5p)的完整物理图谱如下 建造的。这一地区值得研究，因为世界上最大的 常见的缺失综合征，即cri du chat综合征，是一种 在此区域中删除。可行的末端删除，间隙 在CRI DU Chat患者中发现了缺失和易位 它们分布在短臂的各个部位。通过与世隔绝 在包含这些缺失染色体的50个体细胞杂交中，它有 有可能从一条染色体上定位数百个DNA片段 5个特异库连接到30多个不同的5p区域。这卷书 物理作图数据将加快该染色体的继续作图 ARM通过使用COSMID和YAC克隆，直到大的重叠群图谱 生成并链接在一起。这将通过一个 体细胞遗传学、脉冲场凝胶电泳和 COSMID和YAC行走。 构建5P的物理地图对于以下内容非常重要 原因：1)最常见的节段性血管病变之一，cri du chat 综合征与该区域染色体物质的丢失有关。 进一步定位本综合征的临界区(5PL5.2)和 通过这种克隆努力，对潜在基因的鉴定将得到加强。 2)已经确定了一个大的染色体区域(5pl4)，当 删除，不会导致任何智力或发育缺陷。这个 这一地区的基因构成将是人们感兴趣的。3)本土化 5P内超过60个染色体断裂点使该染色体区域成为 丰富的实验资源，专注于更清楚地理解 导致染色体断裂和修复的事件。超过15个断点 仅本地化到5pl5.1。

A complete physical map of the short arm of chromosome 5 (5p) will be constructed. This region is amenable for study because one of the most common deletion syndromes, the cri du chat syndrome, is the result of a deletion in this region. Viable terminal deletions, interstitial deletions, and translocations have been identified in cri du chat patients which have been localized throughout the short arm. Through the isolation of 50 somatic cell hybrids containing these deleted chromosomes, it has been possible to localize several hundred DNA fragments from a chromosome 5 specific library to over 30 distinct regions of 5p. This volume of physical mapping data will speed the continued mapping of this chromosome arm through the use of cosmid and YAC cloning until large contig maps are generated and linked together. This will be accomplished through a combination of somatic cell genetics, pulsed-field gel electrophoresis, and cosmid and YAC walking. The construction of a physical map of 5p is of importance for the following reasons: 1) One of the most common segmental aneusomies, cri du chat syndrome, is associated with loss of chromosomal material in this region. Further localization of the critical region (5pl5.2) for this syndrome and identification of potential genes will be enhanced by this cloning effort. 2) A large chromosomal region (5pl4) has been identified which when deleted, does not result in any mental or developmental deficiencies. The genetic make-up of this region will be of interest. 3) The localization of over 60 chromosomal breakpoints within 5p makes this chromosomal region a rich resource for experiments focused on understanding more clearly the events that lead to chromosomal breakage and repair. Over 15 breakpoints have been localized to 5pl5.1 alone.