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Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population. 1995
M P Russo, and
G Romeo, and
M Devoto, and
G Barbujani, and
G Cabrini, and
A Giunta, and
E D'Alcamo, and
G Leoni, and
F Sangiuolo, and
C Magnani
Istituto Giannina Gaslini, Laboratorio di Genetica Molecolare, Genova, Italy.
Three intragenic microsatellites of the CFTR gene, a TA and a CA repeats, namely IVS17bTA and IVS17bCA, located in intron 17b and a CA repeat (IVS8CA) located in intron 8 of the CFTR gene, were analyzed in a large sample of Italian cystic fibrosis (CF) and normal chromosomes. Linkage disequilibrium was evaluated between each marker and difference CF mutations on a total of 377 CF and 358 normal chromosomes. Our results are consistent with the hypothesis that all delta F508 chromosomes derive from a single mutational event. The same hypothesis is valid for mutations G542X, N1303K, 1717-1G-->A, which might have been originated more recently than delta F508.
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