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DNA Typing of a Cystic Fibrosis Family with Borderline Sweat Tests

The quantitative pilocarpine iontophoresis sweat test (1) represents the most accurate physiological assay to diagnose cystic fibrosis (CF). However, about 2% of tested individuals consistently display sweat chloride concentrations in the borderline range of 50 to 70 mmol/l (2). In this case the uncertainty of the diagnosis of CF can be overcome by DNA typing. We report on a family with borderline sweat tests in which the status of the siblings was determined by the inheritance pattern of restriction fragment length polymorphisms (RFLPs) which are closely linked to the cystic fibrosis locus (3, 4).