1. Objectifs

Intentions :
« Analyse the inbreeding, kinship and surname distribution of the patients with an autosomal recessive disorder. » (p. 292)

2. Méthode

Échantillon/Matériau :
« Population Register that is developed and maintained at the Université du Québec à Chicoutimi. This register contains more than 900,000 birth, marriage, and death certificates related to the french Catholic Population of SLSJ from 1838 to 1986. » (p. 292)

Type de traitement de données :
Analyse de contenu

3. Résumé

« Saguenay-Lac-Saint-Jean (SLSJ) is a region densely affected with several autosomal and recessive disorders. The presence of clinics specialized in the follow-up of these patients and of well-preserved civil records offers a unique opportunity to study some of the basic concepts in population genetics and to apply them to an existing population. The inbreeding, kinship, and insonymy studies performed in SLSJ showed that the presence and the high frequency of the hereditary disorders studied in this northeast region of Quebec is not the consequence of high inbreeding levels, but rather the result of founder effect and genetic drift. » (p. 289)