Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population
- 1 January 1995
- journal article
- research article
- Published by Hindawi Limited in Human Mutation
- Vol. 5 (1) , 23-27
- https://doi.org/10.1002/humu.1380050103
Abstract
Three intragenic microsatellites of the CFTR gene, a TA and a CA repeats, namely IVSl7bTA and IVSl7bCA, located in intron 17b and a CA repcat (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 AF508 chromosomes derive from a single mutational event. The same hypothesis is valid for mutations G542X, N1303K, 1717-1IG→, which might have been originated more recently than δF508. © 1995 Wiley- Liss, Inc.Keywords
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