title: Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families.
abstract: A 3-bp deletion (delta F508) in the cystic fibrosis (CF) gene is the mutation on the majority of CF chromosomes. We studied 112 CF families from North American populations of French ancestry: French-Canadian families referred from hospitals in three cities in Quebec and from the Saguenay-Lac St. Jean region of northeastern Quebec and Acadian families living in Louisiana. delta F508 was present on 71%, 55%, and 70% of the CF chromosomes from the major-urban Quebec, Saguenay-Lac St. Jean, and Louisiana Acadian families, respectively. A weighted estimate of the proportion of delta F508 in the French-Canadian patient population of Quebec was 70%. We found that 95% of the CF chromosomes with delta F508 had D7S23 haplotype B, the most frequent haplotype on CF chromosomes. In the Saguenay-Lac St. Jean families, 86% of the CF chromosomes without delta F508 had the B haplotype, compared with 31% for the major-urban Quebec and Louisiana Acadian families. The incidence of CF in the Saguenay-Lac St. Jean population was 1/895 live-born infants.
authors.affiliation: Department of Pediatrics, Montreal Children's Hospital Research Institute, McGill University, Quebec, Canada.
authors.forename: R
authors.initials: R
authors.lastname: Rozen
authors.forename: R H
authors.initials: RH
authors.lastname: Schwartz
authors.forename: B C
authors.initials: BC
authors.lastname: Hilman
authors.forename: P
authors.initials: P
authors.lastname: Stanislovitis
authors.forename: G T
authors.initials: GT
authors.lastname: Horn
authors.forename: K
authors.initials: K
authors.lastname: Klinger
authors.forename: J
authors.initials: J
authors.lastname: Daigneault
authors.forename: M
authors.initials: M
authors.lastname: De Braekeleer
authors.forename: B
authors.initials: B
authors.lastname: Kerem
authors.forename: L
authors.initials: L
authors.lastname: Tsui
mesh_terms: D015139:Blotting, Southern; D002872:Chromosome Deletion; D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D015342:DNA Probes; D005260:Female; D005602:France / Q000208:ethnology; D005787:Gene Frequency; D008040:Genetic Linkage / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D015994:Incidence; D008145:Louisiana; D008297:Male; D009154:Mutation; D011792:Quebec
chemical_list: D015342:DNA Probes