TRANSLOCATIONS USING GEL MICRODROPS

第二阶段研究的目的是开发一种快速、自动化的方法来 结合荧光光谱分析异常的染色体和核 原位杂交(FISH)、单细胞包埋技术和Flow 细胞学。目前的细胞遗传学方法仅限于基因分析。 像差出现的频率很高，部分原因是基于载玻片 像显微镜这样的方法是高度手动的。 能够快速筛查染色体样本中的DNA异常， 尤其是以低频率存在的那些，对于改善 对这些现象的理解。因为单个染色体不会 在溶液中耐受杂交条件，使用流式细胞仪检测 染色体分析目前还不实用。与…形成对比 显微镜和/或数字图像分析，这种高通量分析 技术的独特之处在于它能够快速分析大型 染色体数目和小亚群的数量。这个 拟议的自动化系统预计将允许快速诊断 多种疾病中的染色体异常。此外, 高危人群的预后筛查和监测 最小的残留疾病将受益于敏感的高吞吐量 细胞遗传学方法。 建议的商业应用：一种快速筛选和 分析大量染色体的DNA异常将是 发展起来的。这样的方法将通过允许更多的 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 适应于那些基于基因的疾病，这些疾病容易 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.