TRANSLOCATIONS USING GEL MICRODROPS

第二阶段的研究旨在开发一种快速，自动化的方法， 通过结合荧光分析异常染色体和细胞核， 原位杂交（FISH）、单细胞包封技术和流式细胞术 细胞仪 目前的细胞遗传学方法仅限于基因分析， 畸变以高频率出现，部分原因是基于载玻片的 诸如显微镜的方法是高度手动的。 快速筛选染色体样本中DNA畸变的能力， 特别是低频的那些，对于改善 了解这些现象。 由于单个染色体不 耐受溶液中的杂交条件，使用流式细胞术 染色体分析目前还不实用。 相比 显微镜和/或数字图像分析，这种高通量分析 这项技术独特之处在于它既能快速分析大量 染色体数目和数量的小亚群体。 的 拟议的自动化系统预计将允许快速诊断 染色体异常导致的各种疾病。 此外，本发明还提供了一种方法， 对高风险个体进行预后筛查，并监测 最小残留病将受益于灵敏、高通量 细胞遗传学方法 拟议的商业应用：一种快速筛选和 分析大量染色体的DNA畸变将是 开发这种方法将通过允许更多的人参与进来来改善医疗保健。 染色体异常的快速诊断涉及广泛的 各种疾病。这种筛查和诊断最初可以 适应于那些易受 基因治疗干预。

Phase II research is aimed at developing a rapid, automated method for analyzing aberrant chromosomes and nuclei by combining fluorescence in situ hybridization (FISH), single cell encapsulation technology, and flow cytometry. Current cytogenetic methods are limited to analysis of gene aberrations present with high frequency, in part, because slide based methods such as microscopy are highly manual. The ability to rapidly screen chromosome samples for DNA aberrations, particularly those present in low frequency, is critical to improving an understanding of these phenomena. Since individual chromosomes do not withstand hybridization conditions in solution, use of flow cytometry for chromosomal analysis is not currently practical. In contrast with microscopy and/or digital image analysis, this high throughput analytical technique is distinctive in its ability to both rapidly analyze large numbers of chromosomes and quantitate small sub populations. The proposed automated system is expected to allow rapid diagnosis of chromosomal abnormalities in a wide variety of diseases. In addition, prognostic screening for high risk individuals and monitoring for minimal residual disease would benefit from sensitive, high throughput cytogenetic methods. PROPOSED COMMERCIAL APPLICATION: A method to rapidly screen and analyze large numbers of chromosomes for DNA aberrations will be developed. Such a method will improve health care by allowing more rapid diagnoses of chromosomal abnormalities implicated in a wide variety of diseases. Such screening and diagnosis could be initially adapted for those genetic based diseases which are susceptible to genetic therapy intervention.