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.
