Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Quebec. Bergeron, J., Normand, T., Bharucha, A., Ven Murthy, M., R., Julien, P., Gagne, C., Dionne, C., De Braekeleer, M., Brun, D., Hayden, M., R., & et al. Clin Genet, 41(4):206-210, 1992.
Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Quebec [link]Website  abstract   bibtex   
Familial lipoprotein lipase deficiency (FLD) is of particular interest to the French Canadian population of Quebec since the largest concentration of homozygotes and carriers of this genetic disease in the world resides in this area. We have previously described a missense mutation (M-188) in the lipoprotein lipase (LPL) gene which was present in FLD patients belonging to different ancestries, including a number of French Canadians (Monsalve MV et al. J Clin Invest 1990: 86: 728-734). In the present report, we show that this mutation, although found in largest absolute numbers among French Canadians as compared to other groups in the world, accounts for only a small proportion (24%) of all the LPL mutant alleles in this population. The M-188 occurs either in the homozygote state or as a compound heterozygote with another LPL mutation. Analysis of geographic distribution indicates that the M-188 is more prevalent in western Quebec, with the highest carrier rate in the Mauricie region. Genealogical reconstruction leads to the recognition of four founders for M-188, all emigrants from France to Quebec in the 17th century.
@article{
 title = {Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Quebec},
 type = {article},
 year = {1992},
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 keywords = {Base Sequence,Female,Heterozygote,Humans,Lipoprotein Lipase Deficiency, Familial/ethnology/,Lipoprotein Lipase/*genetics,Male,Molecular Sequence Data,Mutation/*genetics,Prevalence,Quebec/epidemiology,Research Support, Non-U.S. Gov't},
 pages = {206-210},
 volume = {41},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=1576758},
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 abstract = {Familial lipoprotein lipase deficiency (FLD) is of particular interest to the French Canadian population of Quebec since the largest concentration of homozygotes and carriers of this genetic disease in the world resides in this area. We have previously described a missense mutation (M-188) in the lipoprotein lipase (LPL) gene which was present in FLD patients belonging to different ancestries, including a number of French Canadians (Monsalve MV et al. J Clin Invest 1990: 86: 728-734). In the present report, we show that this mutation, although found in largest absolute numbers among French Canadians as compared to other groups in the world, accounts for only a small proportion (24%) of all the LPL mutant alleles in this population. The M-188 occurs either in the homozygote state or as a compound heterozygote with another LPL mutation. Analysis of geographic distribution indicates that the M-188 is more prevalent in western Quebec, with the highest carrier rate in the Mauricie region. Genealogical reconstruction leads to the recognition of four founders for M-188, all emigrants from France to Quebec in the 17th century.},
 bibtype = {article},
 author = {Bergeron, J and Normand, T and Bharucha, A and Ven Murthy, M R and Julien, P and Gagne, C and Dionne, C and De Braekeleer, M and Brun, D and Hayden, M R and et al., undefined},
 journal = {Clin Genet},
 number = {4}
}
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