ANALYSIS OF LINKAGE DISEQUILIBRIUM BETWEEN DIFFERENT CYSTIC-FIBROSIS MUTATIONS AND 3 INTRAGENIC MICROSATELLITES IN THE ITALIAN POPULATION

Three intragenic microsatellites of the CFTR gene, a TA and a CA repea ts, namely IVS17bTA and IVS 17bCA, located in intron 17b and a CA repe at (IVS8CA) located in intron 8 of the CFTR gene, were analyzed in a l arge sample of Italian cystic fibrosis (CF) and normal chromosomes. Li nkage disequilibrium was evaluated between each marker and different C F mutations on a total of 377 CF and 358 normal chromosomes. Our resul ts are consistent with the hypothesis that all Delta F508 chromosomes derive from a single mutational event. The same hypothesis is valid fo r mutations G542X, N1303K, 1711-1C-->A, which might have been originat ed more recently than Delta F508. (C) 1995 Wiley-Liss, Inc.