title: Three novel polymorphic sequence variants in the type I collagen gene COL1A1, the main disease locus for Osteogenesis Imperfecta.
abstract: Three novel polymorphic variants were found within COL1A1 genomic sequence (accession number AF017178) while screening several patients in the search of OI causal mutations. The three polymorphisms, located in intron 12, exon 26, and intron 29, respectively, can be detected by PCR amplification and digestion with appropriate restriction enzymes (Mbo II, Bst NI, Pvu II, respectively). Allelic frequencies within the Italian population were calculated.
authors.affiliation: Dipartimento Materno Infantile e di Biologia e Genetica, Sezione di Biologia e Genetica, Universit di Verona, Strada le Grazie, 8, 37134 Verona, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Mirandola
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
authors.forename: M
authors.initials: M
authors.lastname: Mottes
mesh_terms: D001483:Base Sequence; D003094:Collagen / Q000235:genetics*; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D004247:DNA / Q000097:blood / Q000737:chemistry; D017931:DNA Primers / Q000737:chemistry; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D017931:DNA Primers; D003094:Collagen; D004247:DNA