CoChat
Sign Up
Cited by 254

The DOI matches its Crossref record.

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

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, 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.·1994·Nature Genetics
DOI 10.1038/ng0694-169
Open this paper in CoChat — free account

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.

Overview

Integrity signals

Registry

Crossref · 10.1038/ng0694-169

Cites

Statistics

Recomputing p-values needs the paper’s full text.

Verification

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Citations

Cites

No references could be resolved yet.

Research works printed but not linked: 35

  1. Boat, T.F., Welsh, M.J. & Beaudet, A.L. in The Metabolic Basis of Inherited Disease 6th edn (eds Scriver, C.L., Beaudet, A.L., Sly, W.S. & Valle, D.) 2649–2680 (McGraw-Hill, New York, 1989).
  2. Rommens, J.M. et al. Identification of the Cystic Fibrosis gene: chromosome walking and jumping. Science 245, 1059–1065 (1989). · DOI
  3. Riordan, J.R. et al. Identification of the Cystic Fibrosis gene: cloning and characterization of complementary cDNA. Science 245, 1066–1073 (1989). · DOI · Paper page
  4. Kerem, B.-S. et al. Identification of the Cystic Fibrosis gene: genetic analysis. Science 245, 1073–1080 (1989). · DOI · Paper page
  5. Tsui, L.-C. Mutations and sequence variations detected in the Cystic Fibrosis conductance Regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium. Hum. Mut. 1, 197–203 (1992). · DOI
  6. Estivill, X. et al. ΔF508 gene deletion in cystic fibrosis in Southern Europe. Lancet 2, 1404 (1989). · DOI
  7. Estivill, X. et al. Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics 1, 257–263 (1987). · DOI
  8. European Working Group on Cystic Fibrosis (EWGCFG). Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. Hum. Genet. 85, 436–445 (1990). · DOI
  9. Ramsay, M. et al. Haplotype analysis to determine the position of a mutation among closely linked DNA markers. Hum. molec. Genet. 2, 1007–1014 (1993). · DOI
  10. Weber, J.L. in Genome Analysis Volume 1: Genetic and Physical mapping (eds Davies, K.E. & Tilghman, S.M.) 159–181 (Cold Spring Harbor Laboratory Press, New York, 1990).
  11. Morral, N. et al. Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers. Human molec. Genet. 2, 1015–1022 (1993). · DOI
  12. Morral, N., Nunes, V., Casals, T. & Estivill, X. CA/GT microsatellite alleles within the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene are not generated by unequal crossing over. Genomics 10, 692–698 (1991). · DOI
  13. Zielenski, J., Markiewicz, D., Rininsland, F., Rommens, J.M. & Tsui, L.-C. A cluster of highly polymorphic dinucleotide repeats in intron 17b of the CFTR gene. Am. J. hum. Genet. 49, 1256–1262 (1991).
  14. Morral, N. et al. Dinucleotide (CA/GT) repeat polymorphism in intron 17b of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. Hum. Genet. 88, 356 (1992). · DOI
  15. Gasparini, P. et al. A tetranucleotide repeat polymorphism in the cystic fibrosis gene. Hum. Genet. 86, 625 (1991). · DOI
  16. Chehab, E.F., Johnson, J., Louie, E., Goosens, M., Kawasaki, E. & Erlich, H. A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the ΔF508 mutation: implications for prenatal diagnosis and mutation origin. Am. J. hum. Genet. 48, 223–226 (1991).
  17. Estivill, X., Morral, N., Casals, T. & Nunes, V. Prenatal diagnosis of cystic fibrosis by multiplex PCR of mutation and microsatellite alleles. Lancet 338, 458 (1991). · DOI
  18. Dörk, T. et al. Intra-and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families. Hum. Genet. 88, 417–425 (1992). · DOI
  19. Felsenstein, J. Phylogeny inference package (version 3.2). Ctadistics 5, 164–166 (1989).
  20. Laughlin, W.H. in Man the Hunter (eds Lee, R.B. & De Vore, I.) 304–320 (Aldine Publishing Company, Chicago, 1968).
  21. Nunes, V. et al. ScrFI restriction fragment lenght polymorphism at the D7S23 locus (probe KM. 19) closely linked to cystic fibrosis. Nucl. Acids Res. 18, 1318 (1990). · DOI
  22. Reynolds, J., Weir, B.S. & Cockerham, C.C. Estimation of the coancestry coefficient: basis for a short term genetic distance. Genetics 105, 767–779 (1983). · DOI
  23. Sneath, P.H.A. & Sokal, R.R. in Numerical Taxonomy (W. H. Freeman and Company, San Francisco, 1973).
  24. Weber, J.L. & Wong, C. Mutation of human short tandem repeats. Hum. molec. Genet. 2, 1123–1128 (1993). · DOI
  25. Banchs, I., Bosch, A., Guimerà, J., Lázaro, C., Puig, A. & Estivill, X. New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines. Human Mut. (in the press).
  26. Stringer, C.B. The emergence of modern humans. Sci. Am. 263, 98–104 (1990). · DOI
  27. Serre, J.L. et al. Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in population genetics. Hum. Genet. 84, 449–454 (1990). · DOI
  28. Romeo, G., Devoto, M. & Galietta, L.J. Why is the cystic fibrosis gene so frequent? Hum. Genet. 84, 1–5 (1989). · DOI
  29. Bertranpetit, J. & Cavalli-Sforza, L.L. Agenetic history of the Iberian Peninsula. Ann. hum. Genet. 55, 51–67 (1991). · DOI
  30. Casals, T., Vázquez, C., Lázaro, C., Girbau, E., Giménez, F.J. & Estivill, X. Cystic fibrosis in the Basque Country : high frequency of mutation ΔF508 in patients of Basque origin. Am. J. hum. Genet. 50, 404–410 (1992).
  31. Gimbutas, M. in The civilisation of the Goddess. The world of Europe (Harper Collins, San Francisco, 1991).
  32. Ammerman, A.J. & Cavalli-Sforza, L.L. in The Neolithic transition and the genetics of populations in Europe (Princeton University Press, New Jersey. 1984). · DOI
  33. Rommens, J.M., Kerem, B.-S., Greer, W., Chang, P., Tsui, L.-C. & Ray, P. Rapid non-radioactive detection of the major cystic fibrosis mutation. Am. J. hum. Genet. 46, 395–396 (1990).
  34. Morral, N. & Estivill, X. Multiplex PCR amplification of three microsatellites within the CFTR gene. Genomics 13, 1362–1364 (1992). · DOI
  35. Hudson, R.R. Genegenealogies and the coalescent process. Oxford Surveys in Evolutionary Biology 7, 1–44 (1990).

Cited by

See all 254

Metadata

Authors
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, 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.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
1994-06
Volume
7
Issue
2
Pages
169-175
ISSN
  • 1061-4036
  • 1546-1718
DOI
10.1038/ng0694-169
Cited by
254
References
0
Language
en
Licence
www.springer.com/tdm (tdm)

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

How to cite

Cite CoChat for the checks on this page, and the paper for its own findings.

This page
CoChat. (2026). Citation check: The origin of the major cystic fibrosis mutation (ΔF508) in European populations. https://app.cochat.ai/papers/10.1038/ng0694-169
The paper
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, M. P., Garnerone, S., Restagno, G., Ferrari, M., Magnani, C., Claustres, M., . . . Kadasi, L. (1994). The origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nature Genetics. https://doi.org/10.1038/ng0694-169