title: Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada).
abstract: Cystic fibrosis (CF) is an autosomal recessive disorder with a prevalence at birth estimated at 1/2000-1/2500 livebirths in Caucasian populations. Some 127 CF individuals are known in Saguenay-Lac-St-Jean (SLSJ), a geographically isolated region of Quebec. The prevalence at birth was estimated at 1/902 live borns, and the carrier rate was estimated at 1/15 inhabitants in the SLSJ region. The mean inbreeding coefficient was only slightly elevated in the CF group compared with three control groups, and was due to remote consanguinity. The mean kinship coefficient was 2.4 times higher in the CF group than in the control groups. In SLSJ region, the places of origin of the CF individuals and their parents did not show a clustered nonuniform distribution. Endogamy was not higher in the CF group than in control groups.
authors.affiliation: Department of Human Sciences, Université du Quebec à Chicoutimi, Canada.
authors.forename: J
authors.initials: J
authors.lastname: Daigneault
authors.forename: G
authors.initials: G
authors.lastname: Aubin
authors.forename: F
authors.initials: F
authors.lastname: Simard
authors.forename: M
authors.initials: M
authors.lastname: De Braekeleer
mesh_terms: D003241:Consanguinity; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005828:Genetics, Population; D006720:Homozygote; D006801:Humans; D015994:Incidence; D008297:Male; D015995:Prevalence; D011792:Quebec / Q000453:epidemiology