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Article: Cystic fibrosis mutations in North American populations of French ancestry: Analysis of Quebec French-Canadian and Louisiana Acadian families

TitleCystic fibrosis mutations in North American populations of French ancestry: Analysis of Quebec French-Canadian and Louisiana Acadian families
Authors
Issue Date1990
PublisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Citation
American Journal Of Human Genetics, 1990, v. 47 n. 4, p. 606-610 How to Cite?
AbstractA 3-bp deletion (ΔF508) in the cystic fibrosis (CF) gene is the mutation on the majority of CF chromosomes. We studied 112 CF families from North American populations of French ancestry: French-Canadian families refered from hospitals in three cities in Quebec and from the Saguenay-Lac St. Jean region of northeastern Quebec and Acadian families living in Louisiana. ΔF508 was present on 71%, 55%, and 70% of the CF chromosomes from the major-urban Quebec, Saguenay-Lac St. Jean, and Louisiana Acadian Families, respectively. A weighted estimate of the proportion of ΔF508 in the French-Canadian patient population of Quebec was 70%. We found that 95% of the CF chromosomes with ΔF508 had D7S23 haplotype B, the most frequent haplotype on CF chromosomes. In the Saguenay-Lac St. Jean families, 86% of the CF chromosomes without ΔF508 had the B haplotype, compared with 31% for the major-urban Quebec and Louisiana Acadian families. The incidence of CF in the Saguenay-Lac St. Jean population was 1/895 live-born infants.
Persistent Identifierhttp://hdl.handle.net/10722/42294
ISSN
2015 Impact Factor: 10.794
2015 SCImago Journal Rankings: 8.769
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorRozen, Ren_HK
dc.contributor.authorSchwartz, RHen_HK
dc.contributor.authorHilman, BCen_HK
dc.contributor.authorStanislovitis, Pen_HK
dc.contributor.authorHorn, GTen_HK
dc.contributor.authorKlinger, Ken_HK
dc.contributor.authorDaigneault, Jen_HK
dc.contributor.authorDe Braekleer, Men_HK
dc.contributor.authorKerem, BSen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorFujiwara, TMen_HK
dc.contributor.authorMorgan, Ken_HK
dc.date.accessioned2007-01-08T02:33:54Z-
dc.date.available2007-01-08T02:33:54Z-
dc.date.issued1990en_HK
dc.identifier.citationAmerican Journal Of Human Genetics, 1990, v. 47 n. 4, p. 606-610en_HK
dc.identifier.issn0002-9297en_HK
dc.identifier.urihttp://hdl.handle.net/10722/42294-
dc.description.abstractA 3-bp deletion (ΔF508) in the cystic fibrosis (CF) gene is the mutation on the majority of CF chromosomes. We studied 112 CF families from North American populations of French ancestry: French-Canadian families refered from hospitals in three cities in Quebec and from the Saguenay-Lac St. Jean region of northeastern Quebec and Acadian families living in Louisiana. ΔF508 was present on 71%, 55%, and 70% of the CF chromosomes from the major-urban Quebec, Saguenay-Lac St. Jean, and Louisiana Acadian Families, respectively. A weighted estimate of the proportion of ΔF508 in the French-Canadian patient population of Quebec was 70%. We found that 95% of the CF chromosomes with ΔF508 had D7S23 haplotype B, the most frequent haplotype on CF chromosomes. In the Saguenay-Lac St. Jean families, 86% of the CF chromosomes without ΔF508 had the B haplotype, compared with 31% for the major-urban Quebec and Louisiana Acadian families. The incidence of CF in the Saguenay-Lac St. Jean population was 1/895 live-born infants.en_HK
dc.format.extent661979 bytes-
dc.format.extent30208 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/msword-
dc.languageengen_HK
dc.publisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/en_HK
dc.relation.ispartofAmerican Journal of Human Geneticsen_HK
dc.rightsAmerican journal of human genetics. Copyright © University of Chicago Press.en_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subject.meshBlotting, southernen_HK
dc.subject.meshChromosome deletionen_HK
dc.subject.meshCystic fibrosis - ethnology - geneticsen_HK
dc.subject.meshDna probesen_HK
dc.subject.meshFrance - ethnologyen_HK
dc.titleCystic fibrosis mutations in North American populations of French ancestry: Analysis of Quebec French-Canadian and Louisiana Acadian familiesen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0002-9297&volume=47&issue=4&spage=606&epage=610&date=1990&atitle=Cystic+fibrosis+mutations+in+North+American+populations+of+French+ancestry:+analysis+of+Quebec+French-Canadian+and+Louisiana+Acadian+familiesen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid2220803-
dc.identifier.pmcidPMC1683794-
dc.identifier.scopuseid_2-s2.0-0025116143en_HK
dc.identifier.volume47en_HK
dc.identifier.issue4en_HK
dc.identifier.spage606en_HK
dc.identifier.epage610en_HK
dc.identifier.isiWOS:A1990EB31900003-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridRozen, R=7102522469en_HK
dc.identifier.scopusauthoridSchwartz, RH=7404171526en_HK
dc.identifier.scopusauthoridHilman, BC=7005734122en_HK
dc.identifier.scopusauthoridStanislovitis, P=6602356975en_HK
dc.identifier.scopusauthoridHorn, GT=7101994138en_HK
dc.identifier.scopusauthoridKlinger, K=7007079511en_HK
dc.identifier.scopusauthoridDaigneault, J=6701308655en_HK
dc.identifier.scopusauthoridDe Braekleer, M=6504379275en_HK
dc.identifier.scopusauthoridKerem, BS=35376353800en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridFujiwara, TM=7403542779en_HK
dc.identifier.scopusauthoridMorgan, K=7401575362en_HK

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