DELETION ANALYSIS OF THE SHORT ARM OF CHROMOSOME 5

5号染色体短臂缺失分析

• 批准号: 3333278
• 负责人: JOAN M OVERHAUSER
• 金额: $ 25.47万
• 依托单位: THOMAS JEFFERSON UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1991
• 资助国家: 美国
• 起止时间: 1991-09-09 至 1994-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3333278
• 关键词: chromosome deletion; chromosome disorders; chromosome walking; cri du chat syndrome; cytogenetics; endonuclease; fusion gene; gene expression; gene rearrangement; genetic disorder; genetic library; genetic manipulation; genetic mapping; genetic markers; genetic transduction; human genetic material tag; human subject; medical records; molecular cloning; molecular genetics; nucleic acid hybridization; nucleic acid sequence; polymerase chain reaction; pulsed field gel electrophoresis; restriction mapping; southern blotting

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.

染色体5（5p）短臂的完整物理图是 构造。该区域可以进行研究，因为其中之一 普通删除综合征，即CRI du Chat综合征，是A的结果 该地区的删除。 可行的终端缺失，间隙 删除和易位已在Cri du Chat患者中确定 在整个短臂上都定位。 通过隔离 在含有这些已删除的染色体的50个体细胞杂种中，它具有 可以从染色体中定位几百个DNA片段 5特定的图书馆，超过30个不同的5p区域。 这卷 物理映射数据将加快该染色体的继续映射 通过使用宇宙和YAC克隆的手臂直到大块地图为止 生成并链接在一起。 这将通过 体细胞遗传学，脉冲场凝胶电泳和 宇宙和Yac步行。 5p的物理图的构建对于以下内容非常重要 原因：1）最常见的节段性障碍，Cri du Chat 综合征与该区域中染色体材料的丧失有关。 该综合征的关键区域的进一步定位（5PL5.2）和 通过这种克隆的努力将增强潜在基因的识别。 2）已经确定了一个大染色体区域（5PL4） 删除，不会导致任何精神或发育缺陷。 这 该区域的基因组成将引起人们的关注。 3）本地化 5p之内的60多个染色体断点使该染色体区域A 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 仅本地化为5pl5.1。