SCREENING TEST FOR CYSTIC FIBROSIS CARRIERS

CYSTIC FIBROSIS (CF) IS A LETHAL GENETIC DISEASE AFFECTING THE WHITE POPULATION IN THE UNITED STATES AND EUROPE. THE GOAL OF THIS PROJECT IS TO USE RECOMBINANT DNA TECHNOLOGY TO GAIN THE INFORMATION NECESSARY TO DESIGN A TEST FOR CF GENE CARRIERS. IN THIS PROJECT LYMPHOBLASTOID CELL LINES WILL BE ESTABLISHES FROM MEMBERS OF LARGE CF PEDIGREES TO PROVIDE A SOURCE OF DNA FROM FAMILY MEMBERS. LATER, THIS DNA WILL BE USED TO DETERMINE THE GENOTYPE OF EACH INDI- VIDUAL USING DNA PROBES THAT DETECT RESTRICTION FRAGMENT LENGTH POLYMORPHISMS. THE CHROMOSOMAL LOCATION OF THE CF GENE WILL BE DETERMINED BY GENETIC LINKAGE TO SUCH DNA MARKERS. CHROMOSOME SPECIFIC CLONING PROCEDURES WILL THEN BE APPLIED TO CLONING AND CHARACTERIZING THE GENE CAUSING CF. THIS INFORMATION CONCERNING THE CF GENE PRO- DUCT WILL BE USED TO DESIGN A RELIABLE TEST FOR CF GENE CARRIERS THAT COULD BE USED TO SCREEN ALL ADULTS IN THE GENERAL POPULATION.