A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians.
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.
Laberge
Anne-Marie
AM
Laboratoire de Neurogénétique, Centre Hospitalier de l'Université de Montréal, Montréal, Québec, Canada.
Jomphe
Michele
M
Houde
Louis
L
Vezina
Helene
H
Tremblay
Marc
M
Desjardins
Bertrand
B
Labuda
Damian
D
St-Hilaire
Marc
M
Macmillan
Carol
C
Shoubridge
Eric A
EA
Brais
Bernard
B
D002170:Canada; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D018703:Founder Effect; D006239:Haplotypes; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000378:metabolism; D015233:Models, Statistical; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D010375:Pedigree; D013997:Time Factors; D044465:White People
D004272:DNA, Mitochondrial