Rapid and Inexpensive Multi-allele Cystic Fibrosis Assay

快速且廉价的多等位基因囊性纤维化检测

• 批准号: 6726221
• 负责人: James R. Prudent
• 金额: $ 43.99万
• 依托单位: ERAGEN BIOSCIENCES, INC.
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-09-06 至 2005-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6726221
• 关键词: alleles; chloride channels; clinical research; cystic fibrosis; diagnosis design /evaluation; diagnostic tests; gene mutation; genetic screening; genotype; human tissue; serology /serodiagnosis; technology /technique development

DESCRIPTION (provided by applicant): Cystic fibrosis is the most common autosomal recessive genetic disease in the United States. With the recent recommendation for multi-mutation CF screening by the ACMG/ACOG, more labs will be implementing multiplexed genotyping assays. Presently, DNA diagnostic tests for CF are expensive, complicated to run and limited to certain ethnic backgrounds. Using a powerful new technology called AEGIS we propose developing a fast, inexpensive, reliable and easy to run a multiplexed mutation detection system for clinical screening of mutations in the CFTR gene that cause CF in the majority of Americans. In Phase I, proof of concept studies will take place to show that the system is feasible for testing CF mutations on human genomic samples. In Phase Il, we intend to develop a clinical diagnostic assay multi-mutation carrier and newborn CF screening. PROPOSED COMMERCIAL APPLICATIONS: This project could result in an easy to run, low-cost, high-throughput, and ultrasensitive method for Cystic Fibrosis DNA mutation screening that minimizes PCR amplicon handling and is run on an inexpensive validated instrument platform. In addition, validation from this project will open the doors to other test kit development such as population carrier screening for other genetic diseases and research based chromosome mapping studies.

描述（由申请人提供）：囊性纤维化是美国最常见的常染色体隐性遗传病。随着 ACMG/ACOG 最近建议进行多突变 CF 筛查，更多实验室将实施多重基因分型测定。目前，CF 的 DNA 诊断测试价格昂贵、运行复杂且仅限于某些种族背景。我们建议使用名为 AEGIS 的强大新技术开发一种快速、廉价、可靠且易于运行的多重突变检测系统，用于临床筛查导致大多数美国人患 CF 的 CFTR 基因突变。在第一阶段，将进行概念验证研究，以表明该系统可用于测试人类基因组样本上的 CF 突变。在第二阶段，我们打算开发一种临床诊断检测多突变携带者和新生儿CF筛查。拟议的商业应用：该项目可能会产生一种易于运行、低成本、高通量和超灵敏的囊性纤维化 DNA 突变筛查方法，最大限度地减少 PCR 扩增子处理，并在廉价的经过验证的仪器平台上运行。此外，该项目的验证将为其他检测试剂盒的开发打开大门，例如其他遗传疾病的群体携带者筛查和基于研究的染色体作图研究。