AN ASSAY FOR GENETIC MUTATIONS CAUSING HYPERCOAGULATION

导致高凝的基因突变检测

• 批准号: 6549813
• 负责人: SUDHAKAR S MARLA
• 金额: $ 42.19万
• 依托单位: NANOSPHERE, INC.
• 依托单位国家: 美国
• 财政年份: 2000
• 资助国家: 美国
• 起止时间: 2000-09-30 至 2004-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6549813
• 关键词: bioassay; blood coagulation; blood coagulation disorders; colorimetry; gene expression; gene mutation; genetic polymorphism; genetic screening; microarray technology; nucleic acid sequence; single nucleotide polymorphism; technology /technique development

DESCRIPTION (provided by applicant): Nanosphere, Inc. is utilizing gold nanoparticle probes to develop a novel chip-based DNA detection technology that does not require target amplification. Because of their ultra-high sensitivity, exquisite specificity, low cost and remarkable stability, the gold nanoparticle probes could define a new industry standard for nucleic acid testing. The current proposal describes two objectives that will significantly broaden our SNP detection capability. First, we will continue developing a rapid test to identify simultaneously SNPs in three genes involved in hypercoagulation disorders [factor V (1691 G->A), prothrombrin (20210 G->A) and MTHFR (677 C->T)]. Phase I feasibility studies have demonstrated key capabilities of the system including detection and SNP discrimination in un-amplified genomic DNA. In Phase II, the individual genes will be integrated into a single test. The system requirements will be optimized and internally validated. In the second objective, strategies to further improve sensitivity and specificity will be evaluated with the goal of increasing our multiplex capability in PCR-less detection. Success in meeting these goals will provide clinical laboratories with a simple test to assess genetic risk factors in hypercoagulation. Further, it will provide the necessary framework for future development of SNP detection tests in genomic DNA for other medically relevant genes.

描述(申请人提供)：纳米球公司正在利用金纳米颗粒探测器开发一种新的基于芯片的DNA检测技术，不需要目标扩增。由于其超高的灵敏度、精致的特异度、低成本和显著的稳定性，金纳米粒子探针有望为核酸检测定义一个新的行业标准。目前的提案描述了两个目标，这两个目标将大大扩大我们的SNP检测能力。首先，我们将继续开发一种快速检测方法，以同时识别与高凝血障碍相关的三个基因[凝血因子V(1691G-gT；A)、凝血蛋白原(20210 G-gT；A)和MTHFR(677C-gT；T)]中的SNPs。第一阶段可行性研究证明了该系统的关键能力，包括检测和识别未扩增基因组DNA中的SNP。在第二阶段，单个基因将被整合到一个单一的测试中。将对系统要求进行优化和内部验证。在第二个目标中，将评估进一步提高敏感性和特异性的策略，以提高我们在非聚合酶链式反应检测中的多重能力。成功实现这些目标将为临床实验室提供一种简单的测试，以评估高凝状态下的遗传风险因素。此外，它将为未来发展基因组DNA中其他医学相关基因的SNP检测提供必要的框架。