The origin of the major cystic fibrosis mutation (ΔF508) in European populations

Nuria Morral, J. Bertranpetit, X. Estivill, V. Nunes, T. Casals, J. Giménez, A. Reis, R. Varon-Mateeva, M. Macek, L. Kalaydjieva, D. Angelicheva, R. Dancheva, G. Romeo, M. P. Russo, S. Garnerone, G. Restagno, M. Ferrari, C. Magnani, M. Claustres, M. Desgeorges & 11 others M. Schwartz, M. Schwarz, B. Dallapiccola, G. Novelli, C. Ferec, M. De Arce, M. Nemeti, J. Kere, M. Anvret, N. Dahl, L. Kadasi

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267 Citations (Scopus)

Abstract

ΔF508 is the most frequent cystic fibrosis (CF) mutation and accounts for approximately 70% of CF chromosomes worldwide. Three highly polymorphic microsatellite markers have been used to study the origin and evolution of ΔF508 chromosomes in Europe. Haplotype data demonstrate that ΔF508 occurred more than 52,000 years ago, in a population genetically distinct from any present European group, and spread throughout Europe in chronologically distinct expansions, which are responsible for the different frequencies of ΔF508 in Europe.

Original languageEnglish (US)
Pages (from-to)169-175
Number of pages7
JournalNature Genetics
Volume7
Issue number2
DOIs
StatePublished - Jun 1994
Externally publishedYes

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Cystic Fibrosis
Mutation
Chromosomes
Population
Microsatellite Repeats
Haplotypes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Morral, N., Bertranpetit, J., Estivill, X., Nunes, V., Casals, T., Giménez, J., ... Kadasi, L. (1994). The origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nature Genetics, 7(2), 169-175. https://doi.org/10.1038/ng0694-169

The origin of the major cystic fibrosis mutation (ΔF508) in European populations. / Morral, Nuria; Bertranpetit, J.; Estivill, X.; Nunes, V.; Casals, T.; Giménez, J.; Reis, A.; Varon-Mateeva, R.; Macek, M.; Kalaydjieva, L.; Angelicheva, D.; Dancheva, R.; Romeo, G.; Russo, M. P.; Garnerone, S.; Restagno, G.; Ferrari, M.; Magnani, C.; Claustres, M.; Desgeorges, M.; Schwartz, M.; Schwarz, M.; Dallapiccola, B.; Novelli, G.; Ferec, C.; De Arce, M.; Nemeti, M.; Kere, J.; Anvret, M.; Dahl, N.; Kadasi, L.

In: Nature Genetics, Vol. 7, No. 2, 06.1994, p. 169-175.

Research output: Contribution to journalArticle

Morral, N, Bertranpetit, J, Estivill, X, Nunes, V, Casals, T, Giménez, J, Reis, A, Varon-Mateeva, R, Macek, M, Kalaydjieva, L, Angelicheva, D, Dancheva, R, Romeo, G, Russo, MP, Garnerone, S, Restagno, G, Ferrari, M, Magnani, C, Claustres, M, Desgeorges, M, Schwartz, M, Schwarz, M, Dallapiccola, B, Novelli, G, Ferec, C, De Arce, M, Nemeti, M, Kere, J, Anvret, M, Dahl, N & Kadasi, L 1994, 'The origin of the major cystic fibrosis mutation (ΔF508) in European populations', Nature Genetics, vol. 7, no. 2, pp. 169-175. https://doi.org/10.1038/ng0694-169
Morral N, Bertranpetit J, Estivill X, Nunes V, Casals T, Giménez J et al. The origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nature Genetics. 1994 Jun;7(2):169-175. https://doi.org/10.1038/ng0694-169
Morral, Nuria ; Bertranpetit, J. ; Estivill, X. ; Nunes, V. ; Casals, T. ; Giménez, J. ; Reis, A. ; Varon-Mateeva, R. ; Macek, M. ; Kalaydjieva, L. ; Angelicheva, D. ; Dancheva, R. ; Romeo, G. ; Russo, M. P. ; Garnerone, S. ; Restagno, G. ; Ferrari, M. ; Magnani, C. ; Claustres, M. ; Desgeorges, M. ; Schwartz, M. ; Schwarz, M. ; Dallapiccola, B. ; Novelli, G. ; Ferec, C. ; De Arce, M. ; Nemeti, M. ; Kere, J. ; Anvret, M. ; Dahl, N. ; Kadasi, L. / The origin of the major cystic fibrosis mutation (ΔF508) in European populations. In: Nature Genetics. 1994 ; Vol. 7, No. 2. pp. 169-175.
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