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

Russo, Mp; Romeo, G; Devoto, M; Barbujani, G; Cabrini, Giulio; Giunta, A; D'Alcamo, E; Leoni, G; Sangiuolo, F; Magnani, C; Cremonesi, L; Ferrari, M.

doi:10.1002/humu.1380050103

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.

Titolo:	Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population
Autori:	Russo MP Romeo G Devoto M Barbujani G CABRINI, GIULIO Giunta A D'Alcamo E Leoni G Sangiuolo F Magnani C Cremonesi L Ferrari M. mostra contributor esterni nascondi contributor esterni
Data di pubblicazione:	1995
Rivista:	HUMAN MUTATION
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.
Handle:	http://hdl.handle.net/11562/786778
Appare nelle tipologie:	01.01 Articolo in Rivista

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