DELETION ANALYSIS OF THE SHORT ARM OF CHROMOSOME 5

5号染色体短臂缺失分析

• 批准号: 3333277
• 负责人: JOAN M OVERHAUSER
• 金额: $ 25.81万
• 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/3333277
• 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.

5号染色体短臂（5p）的完整物理图谱将在 构建了这个地区适合研究，因为其中一个最重要的 常见的缺失综合征，cri du chat综合征，是由于 删除该区域。 活性末端缺失，间质 在Cri du Chat患者中发现了缺失和易位 它们分布在整个短臂上。通过分离 在50个含有这些缺失染色体的体细胞杂交体中， 从一条染色体上定位几百个DNA片段是可能的 5个特异性文库到5p的30多个不同区域。 该体积的 物理映射数据将加速该染色体的继续映射 通过使用粘粒和YAC克隆进行臂化，直到获得大的重叠群图谱。 生成并连接在一起。 这将通过一个 体细胞遗传学、脉冲场凝胶电泳和 粘粒和YAC步行。 5p物理图的构造对于以下方面是重要的： 原因：1）最常见的节段性畸形之一，cri du chat 综合征与该区域染色体物质的丢失有关。 进一步定位该综合征的关键区域（5pl5.2）， 这项克隆工作将加强对潜在基因的鉴定。 2)已经鉴定了一个大的染色体区域（5pl4）， 删除，不会导致任何精神或发育缺陷。 的 这一地区的遗传组成将是令人感兴趣的。3)国产化 5p内超过60个染色体断裂点使该染色体区域成为一个 丰富的实验资源，专注于更清楚地了解 导致染色体断裂和修复的事件。 超过15个断点 仅局限于5p15.1。