HIGH THROUGHPUT FISH MAPPING

高通量鱼类图谱绘制

• 批准号: 6577826
• 负责人: BRADLEY J QUADE
• 金额: $ 16.41万
• 依托单位: BRIGHAM AND WOMEN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-04-01 至 2003-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6577826
• 关键词: artificial chromosomes; biotechnology; cell line; chromosome aberrations; chromosome disorders; chromosome translocation; congenital disorders; cytogenetics; developmental genetics; fluorescent in situ hybridization; functional /structural genomics; gene expression; genetic mapping; high throughput technology; human genetic material tag; human tissue; molecular biology information system; phenotype

DESCRIPTION: (Applicant's Abstract): Project 1 (High Throughput FISH Mapping) will focus on the collection, cataloguing and chromosomal breakpoint mapping of individuals with apparently balanced rearrangements and congenital anomalies. Karyotypes, annotated breakpoints and clinical information will be deposited in the DGAP database (http://dgap.harvard.edu/). Human cell lines will be obtained or established from a national and international network of Clinical Geneticists and Clinical Cytogeneticists in addition to the NIGMS Human Genetic Mutant Cell Respository. Fluorescence in situ hybridization (FISH) using human BAC clones will be used to identify genomic segments that span chromosomal breakpoints. To accomplish high throughput FISH mapping, collaborations have been established with members of the "genome community" who are already providing us with human BACs representing a collection of FISH-mapped clones spaced at an approximately 1 Mb interval throughout the genome and correlated with radiation hybrid-based physical maps. About 100 new breakpoint cases are estimated to be accessioned per year including archived and prospective collections. A well-defined clinical prioritization scheme based on the identification of "two-hit" cases (i.e., patients with similar breakpoints and anomalies) and a biological resources prioritization plan will be employed with the aim of identifying 8 breakpoints per year to be passed to Project 2 (Rapid Gene Discovery). Gene identification and characterization studies from Projects 2 and 3 (Developmental Analysis of Genes in Model Organisms) will be posted on the DGAP database. In overview, Project 1 will serve as the entry point for a functional genomics project that will generate a public resource of genes critical in human development.

描述：(申请人摘要)：项目1(高通量FISH作图)将专注于对具有明显平衡重排和先天性异常的个体进行收集、编目和染色体断点作图。核型、注释断点和临床信息将保存在DGAP数据库(http://dgap.harvard.edu/).除NIGMS人类遗传突变细胞库外，还将从临床遗传学家和临床细胞遗传学家的国家和国际网络获得或建立人类细胞系。使用人类BAC克隆的荧光原位杂交(FISH)将被用于识别跨越染色体断裂点的基因组片段。为了实现高通量FISH图谱，已经与“基因组社区”的成员建立了合作关系，他们已经为我们提供了人类BAC，代表在整个基因组中以大约1Mb间隔间隔分布的FISH图谱克隆的集合，并与基于辐射杂交的物理图谱相关联。估计每年大约有100个新的断点案例，包括存档的和未来的收藏。将采用基于“两次命中”病例(即具有相似断点和异常的患者)的明确的临床优先排序计划和生物资源优先排序计划，目的是每年确定8个断点，以传递给项目2(快速基因发现)。项目2和项目3(模式生物中基因的发育分析)的基因鉴定和特征研究将公布在DGAP数据库上。总而言之，项目1将作为功能基因组学项目的切入点，该项目将产生对人类发育至关重要的公共基因资源。