title: Genotype analysis of the NF1 gene in the French Canadians from the Québec population.
abstract: We genotyped 19 NF1 families from the French Canadians of the Québec population with six intragenic polymorphic markers including 2 RFLPs (EcoRI and RsaI) and 4 microsatellites (IVS26-2.3, IVS27AC28.4, IVS27AC33.1, 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 to 4b. The breakpoint of the deletion is located between exons 4a and 4b. The deletion 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 microsatellites IVS27AC28.4 and IVS38GT53.0 are compared to previously reported data from Caucasians, including Spanish and Italians. The difference is statistically significant (P < 0.0036) for marker IVS27AC28.4 between the Québec French Canadian and the Italian population.
authors.affiliation: Département de Microbiologie et d'Infectiologie, Faculté de Médecine, Université de Sherbrooke, Sherbrooke, Québec J1H 5N4, Canada.
authors.forename: L
authors.initials: L
authors.lastname: Fang
authors.forename: N
authors.initials: N
authors.lastname: Chalhoub
authors.forename: W
authors.initials: W
authors.lastname: Li
authors.forename: J
authors.initials: J
authors.lastname: Feingold
authors.forename: J
authors.initials: J
authors.lastname: Ortenberg
authors.forename: B
authors.initials: B
authors.lastname: Lemieux
authors.forename: J P
authors.initials: JP
authors.lastname: Thirion
mesh_terms: D000483:Alleles; D002170:Canada; D004247:DNA / Q000235:genetics; D005192:Family Health; D005260:Female; D005602:France / Q000208:ethnology; D017353:Gene Deletion; D005787:Gene Frequency; D008040:Genetic Linkage; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D018895:Microsatellite Repeats; D009456:Neurofibromatosis 1 / Q000235:genetics* / Q000473:pathology; D025542:Neurofibromin 1 / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011792:Quebec
chemical_list: D025542:Neurofibromin 1; D004247:DNA