HIGH THROUGHPUT, HIGH RESOLUTION DNA SEQUENCING

我们的目标是开发一种高通量自动测序仪器，用于鉴定DNA分子混合群体中很少出现的突变和多态性，并使用p53基因作为模型系统验证该仪器。机器的操作是基于一种新的检测技术，提供超高分辨率的混合荧光标记。本机主要特点：。以1%的分辨率分析混合DNA样品；。年吞吐量600万bp；。标记的DNA材料量少；。易于更换的毛细管盒；。适应不同染色组的颜色排序；在第一阶段，我们将展示1%分辨率混合DNA样本的可行性，并使用临床DNA材料测试该检测系统。在第二阶段，我们将开发机器的试点原型，并使用p53基因作为模型系统验证机器。在第三阶段，我们将组织制造用于混合DNA样本诊断的12毛细管盒和12通道自动序列。拟议的商业应用：拟议的自动测序机将在遗传疾病，主要是癌症的临床诊断中找到应用。其精确量化受污染DNA样本的独特能力将确保在重要的细分市场中占据主导地位。

Our goal is the development of a high-throughput automated sequencing instrument adapted for identification of rarely present mutations and polymorphism in mixed populations of DNA molecules and validation of the instrument using the p53 gene as a model system. Operation of the machine is based on a novel detection technique which offers the ultra-high resolution of mixed fluorescent markers. Main features of the machine: . analysis of mixed DNA samples with 1% resolution; . throughput of 6,000,000 bp/year; . low amount of labeled DNA material; . Easy-to-replace capillary cassette; . adapted to color sequencing with different dye sets; In Phase 1 we shall demonstrate a feasibility of 1% resolution of mixed DNA samples and test this detection system using clinical DNA material. In Phase II we shall develop a pilot prototype of the machine and validate the machines using the p53 gene as a model system. In Phase III we shall organize manufacturing of the 12-capillary cassettes and 12-lane automated sequence for diagnostics of mixed DNA samples. PROPOSED COMMERCIAL APPLICATION: The proposed automated sequencing machine will find applications in clinical diagnostics of genetic disease, primarily cancer. Its unique capability to precisely quantify contaminated DNA samples will ensure a dominant position in an important market segment.