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Genetic epidemiology of cystic fibrosis in Saguenay‐Lac‐St‐Jean (Quebec, Canada)
Author(s) -
Daigneault Jocelyne,
Aubin Gervais,
Simard Fernand,
Braekeleer Marc De
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03099.x
Subject(s) - consanguinity , endogamy , demography , kinship , inbreeding , epidemiology , cystic fibrosis , genetic epidemiology , proband , founder effect , medicine , genetics , pediatrics , biology , population , genotype , mutation , haplotype , sociology , anthropology , gene
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.