delta F508 deletion in cystic fibrosis in Italian families

G Restagno; S Garnerone; C Gennaro; O Varetto; N Ansaldi; D Castello; B Santini; A O Carbonara

doi:10.1007/BF02428293

delta F508 deletion in cystic fibrosis in Italian families

Hum Genet. 1990 Sep;85(4):422-3. doi: 10.1007/BF02428293.

Authors

G Restagno¹, S Garnerone, C Gennaro, O Varetto, N Ansaldi, D Castello, B Santini, A O Carbonara

Affiliation

¹ Dipartimento di Genetica, Università di Torino, Turin, Italy.

PMID: 1976596
DOI: 10.1007/BF02428293

Abstract

In 20 Italian families with cystic fibrosis (CF), restriction fragment length polymorphisms were detected by five linked markers; a strong linkage disequilibrium is observed between the haplotype B (alleles 2/1 with respect to KM19/XV2c) and CF. The frequency of the delta F508 deletion in CF chromosomes of this sample is 50%. A significant correlation is found between the absence of the delta F508 mutation and pancreatic sufficiency.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cystic Fibrosis / epidemiology
Cystic Fibrosis / genetics*
Gene Frequency
Humans
Italy / epidemiology
Mutation*
Polymorphism, Restriction Fragment Length