Literature DB >> 1582645

Incidence of cystic fibrosis in Saguenay-Lac-St.-Jean (Quebec, Canada).

J Daigneault1, G Aubin, F Simard, M De Braekeleer.   

Abstract

The incidence of cystic fibrosis (CF) in Saguenay-Lac-St.-Jean, a geographically isolated region of Quebec, was estimated to be 1 in 902 during the period 1975-1988. The carrier rate was calculated to be 1 in 15 inhabitants. The high incidence of CF in Saguenay-Lac-St.-Jean is probably the result of a founder effect and genetic drift for one or more mutations. Historical, demographic, and social factors also may have contributed to the high incidence.

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Year:  1992        PMID: 1582645

Source DB:  PubMed          Journal:  Hum Biol        ISSN: 0018-7143            Impact factor:   0.553


  4 in total

1.  Genotype-phenotype correlation in five cystic fibrosis patients homozygous for the 621 + 1G-->T mutation.

Authors:  M De Braekeleer; C Allard; J P Leblanc; F Simard; G Aubin
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  Is meconium ileus genetically determined or associated with a more severe evolution of cystic fibrosis?

Authors:  M De Braekeleer; C Allard; J P Leblanc; G Aubin; F Simard
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

3.  The Pseudomonas aeruginosa Population among Cystic Fibrosis Patients in Quebec, Canada: a Disease Hot Spot without Known Epidemic Isolates.

Authors:  Julie Jeukens; Luca Freschi; Irena Kukavica-Ibrulj; Jean-Guillaume Emond-Rheault; Christian Allard; Jean Barbeau; André Cantin; Steve J Charette; Eric Déziel; François Malouin; Julie Milot; Dao Nguyen; Clara Popa; Brian Boyle; Roger C Levesque
Journal:  J Clin Microbiol       Date:  2019-05-24       Impact factor: 5.948

Review 4.  Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.

Authors:  Mbarka Bchetnia; Luigi Bouchard; Jean Mathieu; Philippe M Campeau; Charles Morin; Diane Brisson; Anne-Marie Laberge; Hélène Vézina; Daniel Gaudet; Catherine Laprise
Journal:  J Med Genet       Date:  2021-04-28       Impact factor: 6.318

  4 in total

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