Three intragenic microsatellites of the CFTR gene, a TA and a CA repeats, namely IVS17bTA and IVSI7bCA, 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 different CF mutations on a total of 377 CF and 358 normal chromosomes. Our results are consistent with the hypothesis that all ΔF508 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 ΔF508.

Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population

CABRINI, GIULIO;
1995

Abstract

Three intragenic microsatellites of the CFTR gene, a TA and a CA repeats, namely IVS17bTA and IVSI7bCA, 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 different CF mutations on a total of 377 CF and 358 normal chromosomes. Our results are consistent with the hypothesis that all ΔF508 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 ΔF508.
Cystic fibrosis mutations, Linkage disequilibrium, Microsatellites
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/786778
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