A mutation in exon 7 of the CFTR gene is common in the western part of France

• Published in: Journal of medical genetics 1992-09, Vol.29 (9), p.679-679
• Main Authors: Audrezet, M P, Mercier, B, Guillermit, H, Ferec, C
• Format: Article
• Language: English
• Subjects: Blood Proteins - genetics; cystic fibrosis; Cystic Fibrosis - epidemiology; Cystic Fibrosis - ethnology; Cystic Fibrosis - genetics; Cystic Fibrosis Transmembrane Conductance Regulator; Ethnic Groups; Exons; France - epidemiology; Gene Frequency; Genes; Humans; man; Mutation; prevalence; transmembrane conductance regulator
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.29.9.679-a

Cystic fibrosis is the most common severe genetic disease found in Caucasians. The gene causing it, called cystic fibrosis transmembrane conductance regulator (CFTR), was cloned three years ago. The most common mutation in populations of north European origin, Delta F508, accounts for about 70% of chromosomes analysed throughout the world. During the past three years more than 100 non- Delta F508 mutations have been found in the CFTR gene, many of them being very rare. In general, in various countries, the most common of these rare mutations accounts for about 2 to 4% of the non- Delta F508 CF chromosomes. While screening for CF mutations in a population of Celtic origins (Brittany, western France) we have found a quite frequent mutation located in exon 7. We would like to draw attention to the fact that the ethnic origin of CF patients is important to take into account in genetic counselling for CF. Identification of almost all the non- Delta F508 mutations is a crucial step in improving genetic diagnosis of CF or in planning a screening test for our population of CF carriers.