Mapping of the Cystic Fibrosis Locus on Chromosome 7

Abstract

Cystic fibrosis (CF) is the most common autosomal recessive disorder affecting approximately 1 out of 2000 live births in the Caucasian population (Talamo et al. 1983). The major clinical manifestations of CF include chronic obstructive pulmonary disease, pancreatic enzyme insufficiency, and elevated sweat electrolyte levels, all of which are suggestive of an inborn error of metabolism involving exocrine glands. If untreated, CF individuals usually die at an early age due to severe lung infection, but, because of the advances in disease treatment, many patients now survive into adulthood. On the other hand, despite extensive research efforts, the basic defect of this disease remains unknown. Although a defective regulation of chloride ion transport seems to be the most consistent measurable parameter in CF (Knowles et al. 1983; Quinton 1983; Quinton and Bijman 1983; Sato 1984; Widdicombe et al. 1985; Yankaskas et al. 1985), it is still not clear whether this abnormality...