MOLECULAR CYTOGENETIC ANALYSIS OF HUMAN CHROMOSOMES

描述(摘自申请人的摘要)：细胞遗传学分析是一项 医学遗传学、肿瘤学和医学遗传学的重要诊断实验室工具 基因研究。几乎每150名新生儿中就有一名患上 需要临床分析和评估的染色体缺陷 细胞遗传学服务。同样的病例来自血液学和血液学 和实体瘤，这些实体瘤被细胞遗传学评估为 癌症诊断。 从历史上看，细胞遗传学分析是由受过专门训练的人进行的 具有各种特定专业知识的技术专家和专业人员 染色体显带方法及其解释。然而，随着 提高对细胞遗传学评估在两种疾病中的价值的认识 在临床医学和研究方面，都缺乏合格的 细胞遗传学家和对快速和明确诊断的需求增加 化验。 目前的第一阶段提案旨在显著改善现有的 技术通过：(1)评估快速产生染色体的方法- 用于荧光原位杂交分析的特异DNA探针； 以及(2)测试几种探测标签的新方法，这些方法将既 通过增加常规检测来提高荧光分析的性能 标记了不同颜色的多条染色体 减少检测标记探针所需的时间。

DESCRIPTION (Adapted from applicant's abstract):Cytogenetic analysis is an important diagnostic laboratory tool in medical genetics, oncology, and genetic research. Nearly one in every 150 newborns is affected with a chromosome defect that requires analysis and evaluation by a clinical cytogenetics service. An equivalent caseload comes from both hematologic and solid tumors that are evaluated cytogenetically as a routine part of cancer diagnosis. Historically, cytogenetic analysis has been performed by specially trained technologists and professionals with specific expertise in a variety of chromosome banding methods and their interpretation. However, with the increasing awareness of the value of cytogenetic assessment in both clinical medicine and in research, there is both a shortage of qualified cytogeneticists and an increased need for rapid and definitive diagnostic assays. The current Phase I proposal aims to significantly improve the existing technology by: (1) evaluating rapid methods of generating chromosome- specific DNA probes for use in fluorescence in situ hybridization assays; and (2) testing several new approaches to probe labelling that will both enhance the performance of fluorescence assays by adding routine detection of multiple chromosomes labelled with different colors and significantly reduce the time required for detection of labelled probes.