Summary
We have analysed five Southern European populations (Albanian, Greek, Italian, Spanish and Yugoslavian) for 14 cystic fibrosis (CF) mutations. The most frequent mutations, apart from ΔF508, were G542X (6.04%), R1162X (3.61%) and N1303K (3.24%). Each of the other analysed mutations were present at a frequency of less than 1% (R347P, R334W, S549RA, S549I, G551D, R553X and W1282X), and four mutations (D110H, ΔI507, S549RT, and S1255X) were not found in this sample. The data presented here allows the use of mutation analysis in 69.5% of Spanish, 58% of Greek, and 56.5% of Italian CF cases.
This is a preview of subscription content, log in via an institution to check access.
References
Cutting GR, Kasch LM, Rosenstein BJ, Zielinsky J, Tsui L-C, Antonarakis SE, Kazazian HH Jr (1990a) A cluster of cystic fibrosis mutations in the first nucleotide binding fold of the cystic fibrosis regulator protein. Nature 346:366–368
Cutting GR, Kasch LM, Rosenstein BJ, Tsui L-C, Kazazian HH Jr, Antonarakis SE (1990b) Two patients with cystic fibrosis nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. N Engl J Med 323:1685–1689
Cystic Fibrosis Genetic Analysis Consortium (CFGAC) (1990) Worldwide survey of the ΔF508 mutation — Report from the Cystic Fibrosis Genetic Analysis Consortium. Am J Hum Genet 47:354–359
Dean M, White M, Amos J, Gerrard B, Stewart C, Khaw K-T, Leppert M (1990) Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell 61:863–870
Estivill X, Casals T, Morral N, Chillon M, Bosch A, Nunes V, Gasparini P, Savoia A, Pignatti PF, Novelli G, Dallapiccola B, Fernandez E, Benitez J, Williamson R (1989) ΔF508 gene deletion in Southern Europe. Lancet II:1404
European Working Group in CF Genetics (EWGCFG) (1990) Population analysis of the major mutation in cystic fibrosis. Hum Genet 85:391–453
Gasparini P, Nunes V, Savoia A, Dognini M, Morral N, Gaona A, Bonizzato A, Chillon M, Sanguiuolo F, Novelli G, Dal-lapiccola B, Pignatti PF, Estivill X (1991) The search for South European cystic fibrosis mutations: identification of four variants, and intronic sequences. Genomics 10:193–200
Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245:1073–1080
Kerem B, Zielenski J, Markiewicz D, Bozen D, Gazit E, Yahaf J, Kennedy D, Riordan JR, Collins FC, Rommens JR, Tsui L-C (1990) Identification of mutations in regions corresponding to the 2 putative (ATP) binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA 87:8447–8451
Osborne L, Knight RA, Santis G, Hodson M (1991) A non conservative mutation in the second nucleotide binding fold of the cystic fibrosis transmembrane regulator. Am J Hum Genet 48:608–612
Sangiuolo F, Novelli G, Murru S, Dallapiccola B (1991) A serine to arginine (AGT to CTG) mutation in codon 549 of the CFTR ene in an Italian patient with severe cystic fibrosis. Genomics 9:778–779
Vidaud M, Fanen P, Martin J, Ghanem N, Nicolas S, Goosens M (1990) Three mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis. Hum Genet 85:446–449
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Nunes, V., Gasparini, P., Noyelli, G. et al. Analysis of 14 cystic fibrosis mutations in five South European populations. Hum Genet 87, 737–738 (1991). https://doi.org/10.1007/BF00201737
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00201737