The Saguenay-Lac St. Jean and Charlevoix regions of Quebec are characterized by high incidences of hereditary diseases such as vitamin D-dependent rickets type I (VDD1), cystic fibrosis, and tyrosinemia. This phenomenon may be due to founder effect or genetic drift. Therefore, one may also detect differences in allele frequencies of neutral polymorphisms between these populations and the general population. An assessment of genetic variation was performed utilizing genetic markers spanning chromosome 12q14. Allele frequencies for the genetic markers in the sample populations did not differ significantly from those published for other Caucasian populations. One haplotype, observed in strong linkage disequilibrium with the VDD1 mutation, was found to be infrequent on normal chromosomes. This suggests that all of the VDD1 mutant alleles could be identical by descent, in keeping with a founder effect for VDD1 in northeastern Quebec.
| Identifer | oai:union.ndltd.org:LACETR/oai:collectionscanada.gc.ca:QMM.59994 |
| Date | January 1991 |
| Creators | Ross, Michelle |
| Publisher | McGill University |
| Source Sets | Library and Archives Canada ETDs Repository / Centre d'archives des thèses électroniques de Bibliothèque et Archives Canada |
| Language | English |
| Detected Language | English |
| Type | Electronic Thesis or Dissertation |
| Format | application/pdf |
| Coverage | Master of Science (Division of Surgical Research.) |
| Rights | All items in eScholarship@McGill are protected by copyright with all rights reserved unless otherwise indicated. |
| Relation | alephsysno: 001215376, proquestno: AAIMM67650, Theses scanned by UMI/ProQuest. |
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