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Titolo:
ASSESSMENT OF FRENCH PATIENTS WITH LPL DEFICIENCY FOR FRENCH-CANADIANMUTATIONS
Autore:
FOUBERT L; DEGENNES JL; LAGARDE JP; EHRENBORG E; RAISONNIER A; GIRARDET JP; HAYDEN MR; BENLIAN P;
Indirizzi:
HOP ST ANTOINE,LAB BIOCHIM BIOL CELLULAIRE & BIOL MOL,184 RUE FAUBOURG ST ANTOINE F-75012 PARIS FRANCE HOP ST ANTOINE,LAB BIOCHIM BIOL CELLULAIRE & BIOL MOL F-75012 PARIS FRANCE HOP LA PITIE SALPETRIERE PARIS FRANCE UNIV BRITISH COLUMBIA VANCOUVER BC V5Z 1M9 CANADA TROUSSEAU HOSP PARIS FRANCE
Titolo Testata:
Journal of Medical Genetics
fascicolo: 8, volume: 34, anno: 1997,
pagine: 672 - 675
SICI:
0022-2593(1997)34:8<672:AOFPWL>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Soggetto:
LIPOPROTEIN-LIPASE GENE; DIFFERENT ANCESTRIES; MISSENSE MUTATION; FAMILIAL CHYLOMICRONEMIA; NONSENSE MUTATION; MOLECULAR-BASIS; DNA; POPULATION; QUEBEC; HETEROZYGOTE;
Keywords:
LIPOPROTEIN LIPASE; FOUNDER MUTATION; FRENCH CANADIANS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
40
Recensione:
Indirizzi per estratti:
Citazione:
L. Foubert et al., "ASSESSMENT OF FRENCH PATIENTS WITH LPL DEFICIENCY FOR FRENCH-CANADIANMUTATIONS", Journal of Medical Genetics, 34(8), 1997, pp. 672-675

Abstract

Mutations in the LPL gene show high levels of allelic heterogeneity between and within different populations, Complete LPL deficiency has avery high prevalence in French Canadians, where only three missense mutations account for >97% of cases, most consistent with founder mutations introduced early in Quebec by French immigrants. In order to determine whether these mutations were present in France, 12 unrelated French families with defined LPL deficiency were investigated for the presence of the mutations found in French Canadians. Of the 24 expected alleles, six (25%) represented mutations in French Canadians (Gly188Glufour alleles, Asp250Asn and Pro207Leu one allele each). Comparison ofFrench Canadian and French alleles identified the same haplotype in all carriers of the Gly188Glu and of the Asp250Asn, suggesting a commonorigin. In contrast, the Pro207Leu occurred on different haplotypes in France and Quebec, compatible with a different ancestral origin.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/04/20 alle ore 07:03:29