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Titolo:
GEOGRAPHIC-DISTRIBUTION OF FRENCH-CANADIAN LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE-MUTATIONS IN THE PROVINCE OF QUEBEC
Autore:
VOHL MC; MOORJANI S; ROY M; GAUDET D; TORRES AL; MINNICH A; GAGNE C; TREMBLAY G; LAMBERT M; BERGERON J; COUTURE P; PERRON P; BLAICHMAN S; BRUN LD; DAVIGNON J; LUPIEN PJ; DESPRES JP;
Indirizzi:
UNIV LAVAL,MED RES CTR,LIPID RES CTR,2075 BLVD LAURIER ST FOY PQ G1V 4G2 CANADA CHU LAVAL,LIPID RES CTR ST FOY PQ CANADA CLIN RES INST MONTREAL PQ CANADA CHICOUTIMI HOSP,LIPID CLIN CHICOUTIMI PQ CANADA HOP ST JUSTINE MONTREAL PQ H3T 1C5 CANADA MONTREAL CHILDRENS HOSP MONTREAL PQ H3H 1P3 CANADA
Titolo Testata:
Clinical genetics
fascicolo: 1, volume: 52, anno: 1997,
pagine: 1 - 6
SICI:
0009-9163(1997)52:1<1:GOFLR>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA; HEART-DISEASE; PREVALENCE; POPULATION; AFRIKANERS; DELETION; JEWS;
Keywords:
FAMILIAL HYPERCHOLESTEROLEMIA; FRENCH-CANADIANS; LOW-DENSITY LIPOPROTEIN RECEPTOR GENE; MUTATIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
24
Recensione:
Indirizzi per estratti:
Citazione:
M.C. Vohl et al., "GEOGRAPHIC-DISTRIBUTION OF FRENCH-CANADIAN LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE-MUTATIONS IN THE PROVINCE OF QUEBEC", Clinical genetics, 52(1), 1997, pp. 1-6

Abstract

A total of 35 homozygous and 1320 heterozygous patients with familialhypercholesterolemia (FH) was screened for the presence of six low-density lipoprotein receptor (LDLR) gene mutations previously reported among French-Canadians. The geographic distribution of patients' birthplaces and the relative prevalence of these six mutations in the LDLR gene in the province of Quebec were compared. For this purpose, the 16 administrative regions of the province of Quebec were grouped into seven geographic regions. The relative frequency of the six mutations differed in the seven regions: the > 15 kb deletion (Delta > 15 kb) had the highest relative frequency in the Pas St-Laurent/Gaspesie region, and the point mutation in exon 3 had the highest relative frequency in the Saguenay-Lac-St-Jean/Cote-Nord region. In the Montreal area, the Delta > 15 kb and the mutation in exon 3 had prevalence rates of 71.2% and 13.0%, respectively, whereas the relative frequencies of the Delta> 15 kb and the point mutation in exon 3 in the Quebec city region were 57.5 and 21.8%, respectively. Finally, in Saguenay-Lac-St-Jean/Cote-Nord, the relative frequency of the Delta > 15 kb only reached 31.5% and the point mutation in exon 3, 59.2%. Thus, on the north shore of the St. Lawrence River, the prevalence of the Delta > 15 kb decreases from west to north-east, whereas the relative frequency of the mutationin exon 3 appears to increase. These observations provide a better characterization of FH among French-Canadians of Quebec, a Canadian province with a high prevalence of this inherited disease.

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Documento generato il 28/11/20 alle ore 18:46:58