In 1989 the gene responsible for cystic fibrosis (CF) was cloned (Riordan et al., 1989;Rommens et al., 1989). A deletion of 3 base pairs in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene resulting in the loss of the amino acid phenylalanine at position 508 of the enco
Frequency of the ΔF508 deletion and G551D, R553X and G542X mutations in Yugoslav CF patients
✍ Scribed by Branka Brukner Dabović; Dragica Radojković; Predrag Minić; Jovan Savić; Ana Savić
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 140 KB
- Volume
- 88
- Category
- Article
- ISSN
- 0340-6717
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Genetic factors have been implicated in the pathogenesis of liver disease in cystic fibrosis. To investigate whether liver disease is associated with particular mutations of the defective gene in cystic fibrosis, we have determined the frequencies of three mutations -AF508, G551D and R553X-in 111 ch
Analysis of a sample of 50 unrelated cystic fibrosis (CF) patients and 46 nuclear families from Slovakia (Czechoslovakia) by the polymerase chain reaction and Southern hybridization revealed that the proportion of the delta F508 mutation was 58% in this population, and that the frequency of the B (i
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