Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population

43 mutations account for only 78% of CF chromosomes

Miguel Chillón, Teresa Casals, Javier Giménez, M. Dolores Ramos, Ana Palacio, Nuria Morral, Xavier P. Estivill, Virginia Nunes

Research output: Contribution to journalArticle

63 Citations (Scopus)

Abstract

We have analysed 972 unrelated Spanish cystic fibrosis patients for 70 known mutations. Analysis was performed on exons 1, 2, 3, 4, 5, 6a, 6b, 7, 10, 11, 12, 13, 14a, 14b, 15, 16, 17b, 18, 19, 20 and 21 of the cystic fibrosis transmembrane regulator gene using single strand conformation polymorphism analysis and denaturing gradient gel electrophoresis. The major mutation ΔF508 accounts for 50.6% of CF chromosomes, whereas another 42 mutations account for 27.6% of CF chromosomes, with 21.8% of Spanish CF chromosomes remaining uncharacterised. At present, we have identified 36 mutations that have frequency of less than 1% and that are spread over 15 different exons. This indicates that, in the Spanish population, with the exception of ΔF508 (50.6%) and G542X (8%), the mutations are not concentrated in a few exons of the gene nor are there any predominating mutations. This high degree of genetic heterogeneity is mainly a result of the different ethnic groups that have populated Spain and of the maintenance of separated population sets (Basques, Arab-Andalusian, Mediterranean, Canarian and Gallician). The high proportion of CF chromosomes still unidentified (21.8%) together with association analysis with intragenic markers suggest that at least 100 different mutations causing CF are present in our population.

Original languageEnglish
Pages (from-to)447-451
Number of pages5
JournalHuman Genetics
Volume93
Issue number4
DOIs
Publication statusPublished - Apr 1994
Externally publishedYes

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Genetic Heterogeneity
Chromosomes
Mutation
Population
Genes
Exons
Cystic Fibrosis
Denaturing Gradient Gel Electrophoresis
Mutation Rate
Regulator Genes
Ethnic Groups
Spain
Maintenance

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population : 43 mutations account for only 78% of CF chromosomes. / Chillón, Miguel; Casals, Teresa; Giménez, Javier; Ramos, M. Dolores; Palacio, Ana; Morral, Nuria; Estivill, Xavier P.; Nunes, Virginia.

In: Human Genetics, Vol. 93, No. 4, 04.1994, p. 447-451.

Research output: Contribution to journalArticle

Chillón, Miguel ; Casals, Teresa ; Giménez, Javier ; Ramos, M. Dolores ; Palacio, Ana ; Morral, Nuria ; Estivill, Xavier P. ; Nunes, Virginia. / Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population : 43 mutations account for only 78% of CF chromosomes. In: Human Genetics. 1994 ; Vol. 93, No. 4. pp. 447-451.
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