Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population
✍ Scribed by Maria Pia Russo; Giovanni Romeo; Marcella Devoto; Guido Barbujani; Giulio Cabrini; Annamaria Giunta; Elena D'Alcamo; Gianbattista Leoni; Federica Sangiuolo; Carmelina Magnani; Laura Cremonesi; Maurizio Ferrari
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 387 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
Communicated by Lap-Cher Tsui 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 (IVSSCA) 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, 1717-1G+A, which might have been originated more recently than AFS08. o 1995 WiIey-Liss, Inc.