Analysis of 14 cystic fibrosis mutations in five South European populations

V. Nunes, P. Gasparini, G. Noyelli, A. Gaona, A. Bonizzato, F. Sangiuolo, A. Balassopoulou, F. J. Giménez, M. Dognini, M. Ravnik-Glavac, M. Cikuli, V. Mokini, R. Komel, B. Dallapiccola, P. F. Pignatti, D. Loukopoulos, T. Casals, X. Estivill

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)737-738
Number of pages2
JournalHuman Genetics
Volume87
Issue number6
DOIs
Publication statusPublished - Oct 1991

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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