Population history and its impact on medical genetics in Quebec.

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