MOLECULAR-GENETIC ANALYSIS OF 2 CHILEAN C YSTIC-FIBROSIS PATIENTS ANDTHEIR FAMILIES

As a contribution to establish the real incidence of cystic fibrosis ( CF) and the prevalent mutations in the Chilean population a method for the defection of DELTAF-508 and R-553X, two of the most frequent muta tions described worldwide, has been implemented. The method is based o n the polymerase chain reaction (PCR) amplification of DNA followed by allele specific restriction enzymatic digestion. The application of t his techniques allowed to confirm CF diagnosis in two patients and to detect asyntomatic carriers in both families. One of the patients show ed normal sweat electrolyte concentration.