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A 'Fille du Roy' Introduced the T14484C Leber Hereditary Optic Neuropathy Mutation in French Canadians
- Source :
- The American Journal of Human Genetics. 77(2):313-317
- Publication Year :
- 2005
- Publisher :
- Elsevier BV, 2005.
-
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.
- Subjects :
- Male
LEBER HEREDITARY OPTIC NEUROPATHY
Canada
Time Factors
DNA Mutational Analysis
Optic Atrophy, Hereditary, Leber
Biology
DNA, Mitochondrial
Haplogroup
White People
03 medical and health sciences
0302 clinical medicine
Report
Genetics
Humans
Genetics(clinical)
Genetics (clinical)
Mitochondrial mutation
030304 developmental biology
Ancestor
0303 health sciences
Models, Statistical
Founder Effect
3. Good health
Mitochondria
Pedigree
Geographic distribution
Haplotypes
Mutation (genetic algorithm)
Mutation
French canadian
Female
030217 neurology & neurosurgery
Founder effect
Subjects
Details
- ISSN :
- 00029297
- Volume :
- 77
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- The American Journal of Human Genetics
- Accession number :
- edsair.doi.dedup.....a58296ab6cd5f5d0a7f87bd4685d4290
- Full Text :
- https://doi.org/10.1086/432491