Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients.
The F508 deletion in the cystic fibrosis transmembrane conductance regulator (CFTR) gene was found in 8 out of 30 Turkish cystic fibrosis (CF) chromosomes (27%). Five Turkish delta F508 CF chromosomes were associated with the risk haplotype B in KM19 (2 allele)/XV2c (1 allele). In the Turkish population, cystic fibrosis is predominantly caused by mutations other than the F508 deletion.
Abteilung Humangenetik, Medizinische Hochschule, Hannover, Federal Republic of Germany.
J
J
Hundrieser
S
S
Bremer
F
F
Peinemann
M
M
Stuhrmann
N
N
Hoffknecht
B
B
Wulf
J
J
Schmidtke
J
J
Reiss
G
G
Maass
B
B
Tümmler
D002872:Chromosome Deletion; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D009154:Mutation; D014421:Turkey / Q000453:epidemiology