[Detection of delta F508 mutation in cystic fibrosis].
The common major mutation (delta F508) resulting in the removal of a phenylalanine residue of the cystic fibrosis gene product has been identified in patients with cystic fibrosis in several European countries. The frequency of this mutation was analyzed in 39 Hungarian patients with cystic fibrosis and in some of their relatives. In 43 out of the total 65 persons involved in the study (66.15%), and in 50% of cystic fibrosis chromosomes the delta F508 mutation could be detected. 56.4% of the patients were homozygous for the mutation. The frequency of the delta F508 mutation in these Hungarian patients resembles the values found in Middle Europe. Pulmonary and enteral symptoms were more severe in cystic fibrosis patients with delta F508 mutation. Although the number of patients is relatively low, missing or mild lung involvement characterized the cases with non-delta F508 mutation.
Fekete
G
G
Semmelweis Orvostudományi Egyetem, II. Gyermekklinika, Budapest.
Váradi
A
A
Pipiras
E
E
Németh
K
K
Réthy
L A
LA
Holics
K
K
Ujhelyi
R
R
D000328:Adult; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation
A delta F508 mutáció kimutatása cystikus fibrosisban.