A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians. Laberge, A., Jomphe, M., Houde, L., Vezina, H., Tremblay, M., Desjardins, B., Labuda, D., St-Hilaire, M., Macmillan, C., Shoubridge, E., A., & Brais, B. American journal of human genetics, 77(2):313-7, 8, 2005. Paper Website abstract bibtex 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.
@article{
title = {A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians.},
type = {article},
year = {2005},
identifiers = {[object Object]},
keywords = {undefined},
pages = {313-7},
volume = {77},
websites = {http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1224533&tool=pmcentrez&rendertype=abstract},
month = {8},
id = {04da82a3-1922-3159-b05b-bfb96bd7743c},
created = {2017-06-19T13:46:40.090Z},
accessed = {2011-02-22},
file_attached = {true},
profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
group_id = {b2078731-0913-33b9-8902-a53629a24e83},
last_modified = {2017-06-19T13:46:40.355Z},
read = {false},
starred = {false},
authored = {false},
confirmed = {true},
hidden = {false},
abstract = {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.},
bibtype = {article},
author = {Laberge, Anne-Marie and Jomphe, Michele and Houde, Louis and Vezina, Helene and Tremblay, Marc and Desjardins, Bertrand and Labuda, Damian and St-Hilaire, Marc and Macmillan, Carol and Shoubridge, Eric A and Brais, Bernard},
journal = {American journal of human genetics},
number = {2}
}
Downloads: 0
{"_id":"4ukcci4E7KFLDBftH","bibbaseid":"laberge-jomphe-houde-vezina-tremblay-desjardins-labuda-sthilaire-etal-afilleduroyintroducedthet14484cleberhereditaryopticneuropathymutationinfrenchcanadians-2005","downloads":0,"creationDate":"2017-06-19T14:46:35.289Z","title":"A \"Fille du Roy\" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians.","author_short":["Laberge, A.","Jomphe, M.","Houde, L.","Vezina, H.","Tremblay, M.","Desjardins, B.","Labuda, D.","St-Hilaire, M.","Macmillan, C.","Shoubridge, E., A.","Brais, B."],"year":2005,"bibtype":"article","biburl":null,"bibdata":{"title":"A \"Fille du Roy\" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians.","type":"article","year":"2005","identifiers":"[object Object]","keywords":"undefined","pages":"313-7","volume":"77","websites":"http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1224533&tool=pmcentrez&rendertype=abstract","month":"8","id":"04da82a3-1922-3159-b05b-bfb96bd7743c","created":"2017-06-19T13:46:40.090Z","accessed":"2011-02-22","file_attached":"true","profile_id":"de68dde1-2ff3-3a4e-a214-ef424d0c7646","group_id":"b2078731-0913-33b9-8902-a53629a24e83","last_modified":"2017-06-19T13:46:40.355Z","read":false,"starred":false,"authored":false,"confirmed":"true","hidden":false,"abstract":"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.","bibtype":"article","author":"Laberge, Anne-Marie and Jomphe, Michele and Houde, Louis and Vezina, Helene and Tremblay, Marc and Desjardins, Bertrand and Labuda, Damian and St-Hilaire, Marc and Macmillan, Carol and Shoubridge, Eric A and Brais, Bernard","journal":"American journal of human genetics","number":"2","bibtex":"@article{\n title = {A \"Fille du Roy\" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians.},\n type = {article},\n year = {2005},\n identifiers = {[object Object]},\n keywords = {undefined},\n pages = {313-7},\n volume = {77},\n websites = {http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1224533&tool=pmcentrez&rendertype=abstract},\n month = {8},\n id = {04da82a3-1922-3159-b05b-bfb96bd7743c},\n created = {2017-06-19T13:46:40.090Z},\n accessed = {2011-02-22},\n file_attached = {true},\n profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},\n group_id = {b2078731-0913-33b9-8902-a53629a24e83},\n last_modified = {2017-06-19T13:46:40.355Z},\n read = {false},\n starred = {false},\n authored = {false},\n confirmed = {true},\n hidden = {false},\n abstract = {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.},\n bibtype = {article},\n author = {Laberge, Anne-Marie and Jomphe, Michele and Houde, Louis and Vezina, Helene and Tremblay, Marc and Desjardins, Bertrand and Labuda, Damian and St-Hilaire, Marc and Macmillan, Carol and Shoubridge, Eric A and Brais, Bernard},\n journal = {American journal of human genetics},\n number = {2}\n}","author_short":["Laberge, A.","Jomphe, M.","Houde, L.","Vezina, H.","Tremblay, M.","Desjardins, B.","Labuda, D.","St-Hilaire, M.","Macmillan, C.","Shoubridge, E., A.","Brais, B."],"urls":{"Paper":"http://bibbase.org/service/mendeley/de68dde1-2ff3-3a4e-a214-ef424d0c7646/file/156a0eda-037c-0c59-20b1-7b59b59c1e62/2005-A_Fille_du_Roy_introduced_the_T14484C_Leber_hereditary_optic_neuropathy_mutation_in_French_Canadians..pdf.pdf","Website":"http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1224533&tool=pmcentrez&rendertype=abstract"},"bibbaseid":"laberge-jomphe-houde-vezina-tremblay-desjardins-labuda-sthilaire-etal-afilleduroyintroducedthet14484cleberhereditaryopticneuropathymutationinfrenchcanadians-2005","role":"author","keyword":["undefined"],"downloads":0},"search_terms":["fille","roy","introduced","t14484c","leber","hereditary","optic","neuropathy","mutation","french","canadians","laberge","jomphe","houde","vezina","tremblay","desjardins","labuda","st-hilaire","macmillan","shoubridge","brais"],"keywords":["undefined"],"authorIDs":[]}