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Titolo:
Genotype analysis of the NF1 gene in the French Canadians from the Quebec population
Autore:
Fang, LJ; Chalhoub, N; Li, WT; Feingold, J; Ortenberg, J; Lemieux, B; Thirion, JP;
Indirizzi:
Univ Sherbrooke, Fac Med, Dept Microbiol & Infect, Sherbrooke, PQ J1H 5N4,Canada Univ Sherbrooke Sherbrooke PQ Canada J1H 5N4 herbrooke, PQ J1H 5N4,Canada Univ Sherbrooke, Fac Med, Dept Pediat, Sherbrooke, PQ, Canada Univ Sherbrooke Sherbrooke PQ Canada Dept Pediat, Sherbrooke, PQ, Canada Rockefeller Univ, Lab Stat Genet, New York, NY USA Rockefeller Univ New York NY USA Univ, Lab Stat Genet, New York, NY USA INSERM, Hop Necker 393, Paris, France INSERM Paris FranceINSERM, Hop Necker 393, Paris, France McGill Univ, Montreal Childrens Hosp, Res Inst, Dept Genet, Montreal, PQ, Canada McGill Univ Montreal PQ Canada es Inst, Dept Genet, Montreal, PQ, Canada
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 3, volume: 104, anno: 2001,
pagine: 189 - 198
SICI:
0148-7299(200112)104:3<189:GAOTNG>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Soggetto:
NEUROFIBROMATOSIS TYPE-1 GENE; LINKAGE-DISEQUILIBRIUM; DEVELOPMENTAL DELAY; SOMATIC MOSAICISM; DELETIONS; PHENOTYPE; MICROSATELLITES; POLYMORPHISMS; PATIENT; REGION;
Keywords:
neurofibromatosis type 1; NF1; genotype analysis; microdeletion; French Canadians;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
41
Recensione:
Indirizzi per estratti:
Indirizzo: Thirion, JP Univ Sherbrooke, Fac Med, Dept Microbiol & Infect, Sherbrooke,PQ J1H 5N4,Canada Univ Sherbrooke Sherbrooke PQ Canada J1H 5N4 Q J1H 5N4,Canada
Citazione:
L.J. Fang et al., "Genotype analysis of the NF1 gene in the French Canadians from the Quebec population", AM J MED G, 104(3), 2001, pp. 189-198

Abstract

We genotyped 19 NF1 families from the French Canadians of the Quebec population with six intragenic polymorphic markers including 2 RFLPs (EcoRI and RsaI) and 4 microsatellites (IVS26-2.3, IVS27AC28.4, IVS 27AC33.1, and IVS38GT53.0). Genotype analysis indicated families 7610 and 7473 bear deletions. In Family 7610 the deletion removed the entire NF1 gene except exons 1 to4b. The breakpoint of the deletion is located between exons 4a and 4b. Thedeletion 7473 was derived from the maternal chromosome and exons 1 to 5 were deleted. The breakpoint of the deletion is located between exons 7 and 13. Their phenotypes are reported. The allele frequencies of microsatellitesIVS27AC28.4 and IVS38GT 53.0 are compared to previously reported data fromCaucasians, including Spanish and Italians. The difference is statistically significant (P < 0.0036) for marker IVS27AC 28.4 between the Quebec French Canadian and the Italian population. (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 20:47:48