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Article Dans Une Revue Human Heredity Année : 2000

Cystic fibrosis mutations: report from the French Registry. The Clinical Centers of the CF.

Résumé

Data from 2,666 patients with cystic fibrosis (CF) born in France, submitted during the period of 1992-1996 to the French registry for CF, were used to describe the different mutations, their frequency and their regional distribution. A total of 5,332 CF chromosomes have been analyzed, demonstrating 229 different mutations and accounting for 87% of CF genes in the French population. DeltaF508 is the most common mutation at 67.9% of CF mutations, followed by G542X (2.5%), N1303K (2.0%), 1717-1G-->A (1.2%), R553X (0.8%) and G551D (0.7%). The data show a clear geographical variation in the distribution of many of the mutations. Given the geographical heterogeneity of these mutations, carrier screening does not appear to be feasible in most French regions.
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Dates et versions

hal-01440889 , version 1 (19-01-2017)

Identifiants

  • HAL Id : hal-01440889 , version 1
  • PUBMED : 10799974

Citer

G Guilloud-Bataille, D de Crozes, G Rault, Anna Degioanni, J Feingold. Cystic fibrosis mutations: report from the French Registry. The Clinical Centers of the CF.. Human Heredity, 2000, pp.142-5. ⟨hal-01440889⟩
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