Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area

Teresa Casals, Virginia Nunes, Ana Palacio, Javier Giménez, Antonia Gaona, Núria Ibáñez, Núria Morral, Xavier Estivill

Research output: Contribution to journalArticle

38 Scopus citations

Abstract

We have determined the frequency of deletion ΔF508 and mutation G542X, a nonsense mutation in exon 11 of the cystic fibrosis (CF) gene, in a sample of 400 Spanish CF families. Mutation G542X represents 8% of the total number of CF mutations in Spain, making it the second most common mutation after the ΔF508 deletion, which accounts for 48% of CF chromosomes. G542X has a higher frequency in the Mediterranean coastal area (14%) and in the Canary Islands (25%). About 70% of G542X chromosomes are from Andalucia, Múrcia, Valencia, Catalunya and the Canary Islands. The ΔF508 deletion has its highest frequency in the Basque Country (83%). Mutation G542X is associated with the same rare haplotype that is found in association with the ΔF508 mutation. The haplotype homogeneity found for G542X, even when intragenic microsatellites (IVS8CA, IVS17BTA and IVS17BCA) are considered, allows us to postulate that this mutation arose from a single mutational event. The geographic distribution of mutations ΔF508 and G542X suggests that ΔF508 was present in the Iberian Peninsula before the Indo-European invasions, and that G542X was introduced into Spain, via the Mediterranean Sea, probably by the Phoenicians, between 2500 and 3000 years ago.

Original languageEnglish (US)
Pages (from-to)66-70
Number of pages5
JournalHuman genetics
Volume91
Issue number1
DOIs
StatePublished - Mar 1 1993
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Casals, T., Nunes, V., Palacio, A., Giménez, J., Gaona, A., Ibáñez, N., Morral, N., & Estivill, X. (1993). Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area. Human genetics, 91(1), 66-70. https://doi.org/10.1007/BF00230225