Novel Assay Development for CFTR Genotyping

CFTR 基因分型的新型检测方法开发

• 批准号: 6649509
• 负责人: James R. Prudent
• 金额: $ 9.85万
• 依托单位: ERAGEN BIOSCIENCES, INC.
• 依托单位国家: 美国
• 财政年份: 2003
• 资助国家: 美国
• 起止时间: 2003-08-01 至 2004-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6649509
• 关键词: chloride channels; cystic fibrosis; diagnosis design /evaluation; diagnostic tests; gene expression; gene mutation; genetic screening; genotype; high performance liquid chromatography; high throughput technology; inborn biological transport disorder; inborn metabolism disorder diagnosis; molecular biology information system; polymerase chain reaction; rapid diagnosis; technology /technique development

DESCRIPTION (provided by applicant): The goal of this project, over Phase I and Phase II, is to develop and validate a new diagnostic platform for CFTR genotyping that provides closed tube, hands off, inexpensive and rapid testing. The American College of Medical Genetics (ACMG) and American College of Obstetricians and Gynecologists (ACOG) has recently recommended that couples planning to have a child be tested for mutations within the cystic fibrosis (CF) gene (CFTR). Thus, there is a real and growing market for a CFTR diagnostic assay. Today's testing systems for CFTR genotyping are complicated to perform, have problems with amplicon carry-over, and take hours to perform. With this grant funding, we will develop a testing system for CFTR genotypes using our novel platform GENE-CODE 2.0. GENE-CODE 2.0 employs an expanded genetic information system (AEGIS) that allows for site-specific enzymatic incorporation of reporter molecules during PCR. Preliminary data suggests that GENE-CODE 2.0 can be used effectively to genotype such targets as CFTR deltaF508, prothrombin and hereditary hemachromatosis. In Phase I we will design and demonstrate the platform on the ACMG/ACOG recommended set of CFTR mutations individually. In Phase II we will develop a complete system to analyze all ACMG/ACOG recommended CFTR mutations simultaneously. In addition, with internal assay capabilities, the system should allow the manufacturer to upgrade sequence specificity in an ultra-fast manner to include additional targets that will arise to include additional ethnic populations.

描述（由申请人提供）：该项目第一阶段和第二阶段的目标是开发和验证用于 CFTR 基因分型的新诊断平台，该平台提供闭管、免干预、廉价且快速的测试。美国医学遗传学会 (ACMG) 和美国妇产科学院 (ACOG) 最近建议计划生育的夫妇接受囊性纤维化 (CF) 基因 (CFTR) 突变检测。因此，CFTR 诊断检测有一个真实且不断增长的市场。当今的 CFTR 基因分型测试系统执行起来很复杂，存在扩增子残留问题，并且需要数小时才能执行。利用这笔赠款资金，我们将使用我们的新颖平台 GENE-CODE 2.0 开发 CFTR 基因型测试系统。 GENE-CODE 2.0 采用扩展遗传信息系统 (AEGIS)，允许在 PCR 过程中对报告分子进行位点特异性酶促掺入。初步数据表明，GENE-CODE 2.0 可有效用于对 CFTR deltaF508、凝血酶原和遗传性血色病等靶点进行基因分型。在第一阶段，我们将针对 ACMG/ACOG 推荐的 CFTR 突变集单独设计和演示该平台。在第二阶段，我们将开发一个完整的系统来同时分析所有 ACMG/ACOG 推荐的 CFTR 突变。此外，凭借内部分析功能，该系统应允许制造商以超快的方式升级序列特异性，以包含将出现的其他目标，包括其他种族群体。