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Human genetics: lessons from Quebec populations.

C R Scriver1

  • 1Departments of Human Genetics, Pediatrics, and Biology, McGill University, Montreal, Quebec, Canada. cscriv@po-box.mcgill.ca

Annual Review of Genomics and Human Genetics
|November 10, 2001
PubMed
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French Canadians in Quebec exhibit high prevalence of 22 Mendelian diseases due to founder effects and genetic drift. Their unique population history offers opportunities for genetic mapping of rare alleles.

Area of Science:

  • Population genetics
  • Human genetics
  • Medical genetics

Background:

  • The Quebec population, with 6 million French Canadians descended from 8500 settlers, has a unique demographic history.
  • Four centuries of relative isolation, migration, and natural increase shaped its population structure and social transmission of behaviors.
  • Immigration has introduced inhomogeneity and allelic diversity, making population subhistories reflect allele histories.

Purpose of the Study:

  • To investigate the genetic diversity and prevalence of Mendelian diseases in Quebec's subpopulations.
  • To explore the roles of founder effects and genetic drift in the clustering of these diseases.
  • To assess the suitability of the Quebec population for linkage disequilibrium mapping of rare alleles.

Main Methods:

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  • Analysis of genealogical data and molecular evidence.
  • Examination of rare pathogenic alleles and associated haplotypes at 10 specific loci.
  • Estimation of historical meioses and analysis of linkage disequilibrium.

    • Main Results:

    • At least 22 Mendelian diseases occur at unusually high prevalence in Quebec subpopulations.
    • Founder effects and genetic drift, not inbreeding, explain disease clustering and prevalence.
    • Specific loci (e.g., CFTR, HEXA, PAH) are associated with diseases like cystic fibrosis, Tay-Sachs, and PKU.

    Conclusions:

    • The genetic diversity within Quebec's subpopulations is significant.
    • The population's history provides valuable insights into the social transmission of demographic behavior.
    • Quebec's unique genetic structure is suitable for constructing a genomic map of linkage disequilibrium and facilitates the study of rare alleles.