Rapid Cystic Fibrosis DNA Mutation Screening Test

描述（由申请人提供）：我们建议配置一种基于DNA的检测方法，以检测囊性纤维化（CF）相关基因（编码囊性纤维化跨膜传导调节蛋白（CFTR））中的突变。与基于美国医学遗传学学院推荐的25个突变组的标准检测相比，该检测试剂盒将对两个国内种族群体（非高加索西班牙裔和非裔美国人）进行扩展突变检测。目前项目的目标是将西班牙裔和非洲裔美国人群体的检出率提高到80%以上。目标也是提高对高加索人的覆盖率。该检测将检测52个CF突变，并将在小型电子芯片，微应答器上实施。每个微应答器由光电池、天线和存储器组成，以存储识别附着在微应答器表面的DNA探针序列的信息。在测定中，荧光标记的靶DNA与DNA探针结合。微应答器表面的荧光强度在基于流动的仪器中定量，该仪器还读取芯片的ID。这些芯片以及读取芯片的仪器都是由PharmaSeq制造的。该计划的好处包括改善疾病相关突变的检测，从而为囊性纤维化患者提供更好的医疗保健，并扩大对囊性纤维化遗传基础的临床理解。

DESCRIPTION (provided by applicant): We propose to configure a DNA-based assay to detect mutations in the gene related to cystic fibrosis (CF), encoding the cystic fibrosis transmembrane conductance regulator protein (CFTR). The assay will have an extended mutation detection for two domestic ethnic groups, non-Caucasian Hispanics and African Americans compared with the standard assay based on the 25-mutation panel recommended by American College of Medical Genetics. The aim of the current project is to improve the detection rates above 80% for both the Hispanic and African American groups. The goal is also to improve the coverage for Caucasians. The assay will detect 52 CF mutations and will be implemented on small electronic chips, microtransponders. Each microtransponder is composed of photocells, antenna and memory to store information that identifies the sequence of the DNA probes attached to the microtransponder surface. In the assay, fluorescently labeled target DNA binds to DNA probes. The fluorescence intensity of the microtransponder surface is quantified in a flow-based instrument, which also reads the ID of the chip. The chips, as well as the instrumentation to read the chips, have been built by PharmaSeq. The benefits of the program include improved detection of disease-related mutations leading to better health care for cystic fibrosis-affected individuals and extending clinical understanding of the genetic basis of cystic fibrosis.