Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers

Núria Morral, Thilo Dörk, Roser Llevadot, Violetta Dziadek, Bernard Mercier, Claude Férec, Bruno Costes, Emmanuelle Girodon, Julian Zielenski, Lap Chee Tsui, Burkhard Tümmler, Xavier Estivill

Research output: Contribution to journalArticlepeer-review

49 Scopus citations


We have analyzed 416 normal and 467 chromosomes carrying 94 different cystic fibrosis (CF) mutations with polymorphic genetic markers J44, IVS6aGATT, IVS8CA, T854, IVS17BTA, IVS17BCA, and TUB20. The number of mutations found with each haplotype is proportional to its frequency among normal chromosomes, suggesting that there is no preferential haplotype in which mutations arise and thus excluding possible selection for specific haplotypes. While many common mutations in the worldwide CF population showed absence of haplotype variation, indicating their recent origins, some mutations were associated with more than one haplotype. The most common CF mutations, ΔF508, G542X, and N1303K, showed the highest number of slippage events at microsatellites, suggesting that they are the most ancient CF mutations. Recurrence was probably the case for 9 CF mutations (R117H, H199Y, R347YH, R347P, L558S, 2184insA, 3272-26A→G, R1162X, and 3849+10kbC→T). This analysis of 94 CF mutations should facilitate mutation screening and provides useful data for studies on population genetics of CF.

Original languageEnglish (US)
Pages (from-to)149-159
Number of pages11
JournalHuman Mutation
Issue number2
StatePublished - Aug 22 1996
Externally publishedYes


  • Cystic fibrosis
  • Haplotypes
  • Mutation screening

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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