Population history and its impact on medical genetics in Quebec

Clin Genet. 2005 Oct;68(4):287-301. doi: 10.1111/j.1399-0004.2005.00497.x.


Knowledge of the genetic demography of Quebec is useful for gene mapping, diagnosis, treatment, community genetics and public health. The French-Canadian population of Quebec, currently about 6 million people, descends from about 8500 French settlers who arrived in Nouvelle-France between 1608 and 1759. The migrations of those settlers and their descendants led to a series of regional founder effects, reflected in the geographical distribution of genetic diseases in Quebec. This review describes elements of population history and clinical genetics pertinent to the treatment of French Canadians and other population groups from Quebec and summarizes the cardinal features of over 30 conditions reported in French Canadians. Some were discovered in French Canadians, such as autosomal recessive ataxia of the Charlevoix-Saguenay (MIM 270550), agenesis of corpus callosum and peripheral neuropathy (MIM 218000) and French-Canadian-type Leigh syndrome (MIM 220111). Other conditions are particularly frequent or have special genetic characteristics in French Canadians, including oculopharyngeal muscular dystrophy, hepatorenal tyrosinaemia, cystic fibrosis, Leber hereditary optic neuropathy and familial hypercholesterolaemia. Three genetic diseases of Quebec First Nations children are also discussed: Cree encephalitis (MIM 608505), Cree leukoencephalopathy (MIM 603896) and North American Indian childhood cirrhosis (MIM 604901).

Publication types

  • Historical Article
  • Review

MeSH terms

  • Ethnicity / genetics
  • Founder Effect
  • France / ethnology
  • Genetic Diseases, Inborn / epidemiology*
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / history
  • Genetics, Medical* / history
  • Genetics, Population* / history
  • History, 17th Century
  • History, 18th Century
  • History, 19th Century
  • Humans
  • Indians, North American / genetics
  • Quebec / epidemiology