Rapid Cystic Fibrosis DNA Mutation Screening Test

描述(申请人提供)：我们建议配置一种基于DNA的检测方法来检测囊性纤维化(CF)相关基因的突变，该基因编码囊性纤维化跨膜传导调节蛋白(CFTR)。与美国医学遗传学学院推荐的基于25个突变小组的标准检测方法相比，该检测方法将扩大对国内两个民族-非高加索拉美裔和非裔美国人的突变检测。目前项目的目标是提高西班牙裔和非裔美国人群体的检测率，达到80%以上。目标也是提高高加索人的覆盖率。该检测将检测52个CF突变，并将在小型电子芯片、微型应答器上实现。每个微应答器由光电池、天线和存储器组成，用于存储识别连接到微应答器表面的DNA探针序列的信息。在检测中，荧光标记的靶DNA与DNA探针结合。微型应答器表面的荧光强度在基于流动的仪器中被量化，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进了疾病相关突变的检测，为囊性纤维化患者提供了更好的医疗保健，并扩大了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.