Unique PABP2 mutations in "Cajuns" suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry. Scacheri, P., C., Garcia, C., Hébert, R., Hoffman, E., P., & Hebert, R. Am J Med Genet, 86(5):477-481, 10, 1999.
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Paper Website abstract bibtex Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset autosomal dominant myopathy found world-wide, but with the highest incidence in French-Canadians. Short GCG expansions in the poly(A) binding protein 2 (PABP2) gene were identified recently as the molecular basis for OPMD in French-Canadians. All French-Canadian cases of OPMD have been traced to a single founder couple [Bouchard, 1997: Neuromuscul Disord 7(Suppl):S5-S11]. Cultural links between French-Canadians and Cajuns suggest that this same founder couple may have transmitted the OPMD mutation to Cajuns as well. To determine if OPMD patients from Louisiana share a founder effect with French-Canadian families, we collected blood samples and muscle biopsies from several Cajuns with OPMD for mutation and linkage studies. We found a unique 'GCA GCG GCG' insertion mutation in Cajuns. Consistent with these sequence data, we identified a disease haplotype in our Cajun families that is different from the ancestral haplotype defined in French-Canadians. These data prove that different founders introduced the PABP2 mutation to Cajuns and French-Canadians and lend support to emerging genealogical data suggesting that French-Canadians and Cajuns represent distinct immigrant groups from France.
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title = {Unique PABP2 mutations in "Cajuns" suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry},
type = {article},
year = {1999},
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keywords = {Base Sequence,Canada,Canada/ethnology,Canada: ethnology,DNA-Binding Proteins,DNA-Binding Proteins/*genetics,DNA-Binding Proteins: genetics,Ethnic Groups,Ethnic Groups/*genetics,Ethnic Groups: genetics,Female,France,France/ethnology,France: ethnology,Human,Humans,Louisiana,Male,Microsatellite Repeats,Microsatellite Repeats/*genetics,Microsatellite Repeats: genetics,Muscular Dystrophies,Muscular Dystrophies/*genetics,Muscular Dystrophies: genetics,Non-U.S. Gov't,Pedigree,Poly(A)-Binding Protein II,Support},
pages = {477-481},
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month = {10},
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notes = {<m:note> <m:bold>From Duplicate 1 ( </m:bold> <m:bold> </m:bold><m:bold><m:italic>Unique PABP2 mutations in "Cajuns" suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry</m:italic></m:bold><m:bold> </m:bold> <m:bold> - Scacheri, P C; Garcia, C; Hebert, R; Hoffman, E P )<m:linebreak/> </m:bold> <m:linebreak/>Journal Article<m:linebreak/> <m:linebreak/> </m:note>},
abstract = {Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset autosomal dominant myopathy found world-wide, but with the highest incidence in French-Canadians. Short GCG expansions in the poly(A) binding protein 2 (PABP2) gene were identified recently as the molecular basis for OPMD in French-Canadians. All French-Canadian cases of OPMD have been traced to a single founder couple [Bouchard, 1997: Neuromuscul Disord 7(Suppl):S5-S11]. Cultural links between French-Canadians and Cajuns suggest that this same founder couple may have transmitted the OPMD mutation to Cajuns as well. To determine if OPMD patients from Louisiana share a founder effect with French-Canadian families, we collected blood samples and muscle biopsies from several Cajuns with OPMD for mutation and linkage studies. We found a unique 'GCA GCG GCG' insertion mutation in Cajuns. Consistent with these sequence data, we identified a disease haplotype in our Cajun families that is different from the ancestral haplotype defined in French-Canadians. These data prove that different founders introduced the PABP2 mutation to Cajuns and French-Canadians and lend support to emerging genealogical data suggesting that French-Canadians and Cajuns represent distinct immigrant groups from France.},
bibtype = {article},
author = {Scacheri, P C and Garcia, C and Hébert, R and Hoffman, E P and Hebert, R},
journal = {Am J Med Genet},
number = {5}
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These data prove that different founders introduced the PABP2 mutation to Cajuns and French-Canadians and lend support to emerging genealogical data suggesting that French-Canadians and Cajuns represent distinct immigrant groups from France.","bibtype":"article","author":"Scacheri, P C and Garcia, C and Hébert, R and Hoffman, E P and Hebert, R","journal":"Am J Med Genet","number":"5","bibtex":"@article{\n title = {Unique PABP2 mutations in \"Cajuns\" suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry},\n type = {article},\n year = {1999},\n identifiers = {[object Object]},\n keywords = {Base Sequence,Canada,Canada/ethnology,Canada: ethnology,DNA-Binding Proteins,DNA-Binding Proteins/*genetics,DNA-Binding Proteins: genetics,Ethnic Groups,Ethnic Groups/*genetics,Ethnic Groups: genetics,Female,France,France/ethnology,France: ethnology,Human,Humans,Louisiana,Male,Microsatellite Repeats,Microsatellite Repeats/*genetics,Microsatellite Repeats: genetics,Muscular Dystrophies,Muscular Dystrophies/*genetics,Muscular Dystrophies: genetics,Non-U.S. Gov't,Pedigree,Poly(A)-Binding Protein II,Support},\n pages = {477-481},\n volume = {86},\n websites = {http://www.ncbi.nlm.nih.gov/pubmed/10508991},\n month = {10},\n day = {29},\n id = {45d065a8-6799-3e6b-880b-3fa24b3356fa},\n created = {2017-06-19T13:42:02.365Z},\n file_attached = {true},\n profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},\n group_id = {b2078731-0913-33b9-8902-a53629a24e83},\n last_modified = {2017-06-19T13:42:02.505Z},\n tags = {04/09/07},\n read = {false},\n starred = {false},\n authored = {false},\n confirmed = {true},\n hidden = {false},\n source_type = {Journal Article},\n notes = {<m:note> <m:bold>From Duplicate 1 ( </m:bold> <m:bold> </m:bold><m:bold><m:italic>Unique PABP2 mutations in "Cajuns" suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry</m:italic></m:bold><m:bold> </m:bold> <m:bold> - Scacheri, P C; Garcia, C; Hebert, R; Hoffman, E P )<m:linebreak/> </m:bold> <m:linebreak/>Journal Article<m:linebreak/> <m:linebreak/> </m:note>},\n abstract = {Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset autosomal dominant myopathy found world-wide, but with the highest incidence in French-Canadians. 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