delta F508 deletion in cystic fibrosis in Italian families.
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.
Restagno
G
G
Dipartimento di Genetica, Università di Torino, Turin, Italy.
Garnerone
S
S
Gennaro
C
C
Varetto
O
O
Ansaldi
N
N
Castello
D
D
Santini
B
B
Carbonara
A O
AO
D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D007558:Italy / Q000453:epidemiology; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length