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Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients
Author(s) -
Eiklid Kristin,
Tranebjærg Lisbeth,
Eiken Hans G.,
Pedersen Jan C.,
Michalsen Helge,
Fluge Gjermund,
Schwartz Marianne,
Nilsen Bjørn R.,
Bolle Roald,
Skyberg Dag,
Boman Helge,
Berg Kare
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb03834.x
Subject(s) - haplotype , genetics , δf508 , cystic fibrosis , locus (genetics) , exon , biology , mutation , microbiology and biotechnology , allele , cystic fibrosis transmembrane conductance regulator , gene
Eiklid K, Tranebjærg L, Eiken HG, Pedersen JC, Michalsen H, Fluge G, Schwartz M, Nilsen BR, Bolle R, Skyberg D, Boman H, Berg K. Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients. Clin Genet 1993: 44: 12–14. © Munksgaard, 1993 We have searched for the ΔF508 mutation in 77 Norwegian cystic fibrosis patients. Of the 154 chromosomes tested, 93 (60%) carried the ΔF508 mutation. Haplotypes at the D7S23 locus (KM19 and XV2C markers) were determined. Of 81 chromosomes with the F508 mutation, the B haplotype was found on 77. We found three patients with the G551D and one patient with the R553X mutation in exon 11 of the CFTR locus.