Rapid and Inexpensive Multi-allele Cystic Fibrosis Assay

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疾病。随着ACMG/ACOG最近对多突变CF筛查的推荐，更多的实验室将实施多重基因分型分析。目前，CF的DNA诊断测试价格昂贵，操作复杂，并且仅限于某些种族背景。利用一种名为AEGIS的强大新技术，我们建议开发一种快速、廉价、可靠且易于运行的多路突变检测系统，用于临床筛选导致大多数美国人CF的CFTR基因突变。在第一阶段，将进行概念验证研究，以表明该系统在人类基因组样本上测试CF突变是可行的。在i期，我们打算开发一种多突变携带者和新生儿CF筛查的临床诊断方法。建议的商业应用：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，该方法可以最大限度地减少PCR扩增子处理，并且可以在廉价的验证仪器平台上运行。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人群携带者筛选和基于研究的染色体作图研究。

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.