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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1994-06

AUTHORS

N. 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, M. Schwartz, M. Schwarz, B. Dallapiccola, G. Novelli, C. Ferec, M. de Arce, M. Nemeti, J. Kere, M. Anvret, N. Dahl, L. Kadasi

ABSTRACT

delta F508 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 delta F508 chromosomes in Europe. Haplotype data demonstrate that delta F508 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 delta F508 in Europe. More... »

PAGES

169-175

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng0694-169

DOI

http://dx.doi.org/10.1038/ng0694-169

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1034922389

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7920636


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