AUTOMATED COLOR KARYOTYPING

描述：（改编自申请人摘要）：本文的目标 项目是开发改进的硬件、软件和样品制备 技术，使人类细胞的自动核型分析显着 更快、更准确、更容易解释 染色体涂染探针和多光谱图像分析。 在第一阶段，研究人员将评估组合和比例 标记和使用从体细胞杂种和从 显微解剖 最终它们会在原位产生荧光 杂交（FISH）标本制备技术，以独特地标记所有 使用染色体中荧光团的混合物的24种人类染色体类型 油漆探头 他们建议开发一种具有特殊 多光谱CCD相机和新的图像分析软件来识别 仅通过颜色就可以确定DNA的同源起源。 结合常规 形态和条带信息，这是为了产生一个近， 无错误核型，显著减少所需的操作时间 用于交互式纠错，从而增加仪器的 吞吐率 彩色核型将显示数字和大体 结构异常，图像分析会标记易位 遗传物质，进一步帮助诊断。 研究人员将在产后和癌症标本上测试该系统 从骨髓和外周血中提取 当完全开发时，新 这项技术将被整合到IRIS现有的细胞遗传学系列中， 自动化产品。 这将导致商业工具， 更有效地进行自动核型分析， 并阐明染色体内的小结构重排。

DESCRIPTION: (Adapted from the Applicant's Abstract): The Goal of this project is to develop improved hardware, software and specimen preparation techniques to make the automated karyotyping of human cells significantly faster, more accurate, and easier to interpret by using multicolor chromosome painting probes and multispectral image analysis. In phase I, the investigators will evaluate combinatorial and ratio labeling and the use of DNA obtained from somatic cell hybrids and from microdissection. Ultimately they will develop fluorescence in situ hybridization (FISH) specimen preparation techniques to label uniquely all 24 human chromosome types using mixtures of fluorophores in chromosome painting probes. They propose to develop an instrument with a special multispectrual CCD camera and new image analysis software to identify the homologue origin of DNA by color alone. Combined with conventional morphological and banding information this is intended to produce a near- error-free karyotype, significantly reducing the operator time required for interactive error correction and thereby increasing the instrument's throughput rate. The color karyotype will show numerical and gross structural abnormalities, and the image analysis will flag translocations of genetic material, further assisting diagnosis. The investigators will test the system on postnatal and cancer specimens from bone marrow and peripheral blood. When fully developed, the new technology will be integrated into IRIS's existing line of cytogenetics automation products. This will result in commercial instruments that are more effective in automated karyotyping and can more accurately detect and elucidate small structural rearrangements within chromosomes.