Laberge Anne-Marie, Jomphe Michèle, Houde Louis, Vézina Hélène, Tremblay Marc, Desjardins Bertrand, Labuda Damian, St-Hilaire Marc, Macmillan Carol, Shoubridge Eric A. et Brais Bernard. (2005). A “Fille du Roy” introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians. The American Journal of Human Genetics, 77, (2), p. 313-317.
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URL officielle: https://dx.doi.org/doi:10.1086/432491
Résumé
The predominance of the T14484C mutation in French Canadians with Leber hereditary optic neuropathy is due to a founder effect. By use of genealogical reconstructions of maternal lineages, a woman married in Quebec City in 1669 is identified as the shared female ancestor for 11 of 13 affected individuals, who were previously not known to be related. These individuals carry identical mitochondrial haplogroups. The current geographic distribution of French Canadian cases overlaps with that of the founder’s female descendants in 1800. This is the first example of genealogical reconstruction to identify the introduction of a mitochondrial mutation by a woman in a founder population.
Type de document: | Article publié dans une revue avec comité d'évaluation |
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ISSN: | 00029297 |
Volume: | 77 |
Numéro: | 2 |
Pages: | p. 313-317 |
Version évaluée par les pairs: | Oui |
Date: | 2005 |
Identifiant unique: | 10.1086/432491 |
Sujets: | Sciences sociales et humaines > Sciences humaines > Histoire Sciences sociales et humaines > Sciences sociales > Démographie Sciences de la santé > Sciences médicales > Génétique |
Département, module, service et unité de recherche: | Départements et modules > Département des sciences humaines |
Déposé le: | 15 oct. 2022 17:25 |
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Dernière modification: | 15 oct. 2022 17:25 |
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