DIAGNOSTIC USEFULNESS OF THE POLYMORPHISM OF THE GT DINUCLEOTIDE AND THE POLYTHYMIDINE TRACT IN INTRON-8 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE

15-20% of the CF mutation are expected to be rare and escape detection by systems designed to screen for common mutations, The highly polymo rphic simple repeats would be particularly useful for genetic diagnosi s in CF families where the mutations have not been identified. In this study, we used denaturing gradient gel electrophoresis with psoralen- modified oligonucleotide primers to study the GTnTm polymorphism previ ously identified at the intron 8 - exon 9 junction of the CFTR gene, T welve characteristic patterns were identified, The most frequent genot ype in CF alleles was GT10T9 and in non-CF alleles GT11T7. In this stu dy, the heterozygous incidence is 70% in unrelated CF carriers, This p olymorphism is full informative in 45% and half-informative in 50%. We conclude, that this polymorphism, easy to study by a relatively simpl e, rapid and cheap procedure, would be particularly useful in genetic counselling for CF and prenatal diagnosis in CF families in which muta tions have not been yet identified.