Cystic fibrosis mutations in French Canadians: Three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis |
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| Authors: | Rima Rozen Marc De Braekeleer Jocelyne Daigneault Leonor Ferreira-Rajabi Maria Gerdes Linda Lamoureux Gervais Aubin Fernand Simard T. Mary Fujiwara Kenneth Morgan |
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| Affiliation: | 1. Department of Pediatrics, McGill University, Montreal, Quebec, Canada;2. Department of Biology, McGill University, Montreal, Quebec, Canada;3. Centre for Human Genetics, McGill University, Montreal, Quebec, Canada;4. McGill University–Montreal Children's Hospital Research Institute, Chicoutimi, Quebec Canada |
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| Abstract: | The French-Canadian population in the Saguenay-Lac St. Jean region of northeastern Quebec has an elevated frequency of cystic fibrosis (CF). The average incidence of cystic fibrosis was 1 in 891 births and the prevalence of CF carriers was estimated to be 1 in 15. We tested for 10 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 133 French-Canadian CF families from Quebec. Ninety-one families were from the Saguenay-Lac St. Jean region and 42 families were referred from other regions of Quebec. We detected the CFTR mutation in 93 and 92% of the CF chromosomes in the Saguenay-Lac St. Jean and the major-urban Quebec families, respectively. The two groups of French-Canadian families were significantly different for the proportions of CFTR mutations. The three most common mutations in the Saguenay-Lac St. Jean families were ΔF508 (58%), 621 + 1G → T (23%), and A455E (8%); and in the major-urban Quebec families were ΔF508 (71%), 711 + 1G → T (9%), and 621 + 1G → T (5%). These results provide evidence for the role of founder effect in the elevated incidence of cystic fibrosis in the Saguenay-Lac St. Jean population. |
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| Keywords: | cystic fibrosis CFTR mutations French-Canadian founder effect |
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