title: Segregation analysis of dominant osteogenesis imperfecta in Italy.
abstract: We have performed linkage analysis in seven Italian families, in which mild osteogenesis imperfecta (OI) segregated as a dominant trait, by means of six DNA restriction fragment length polymorphisms (RFLPs) of type I collagen genes. OI type I was linked to the alpha 1(I) gene (COL1A1) in two families, and to the alpha 2(I) gene (COL1A2) in one family. OI type IV segregated with COL1A2 in two families. In two OI type I families, the molecular genetic data were insufficient for exclusion of one gene. Four DNA polymorphisms were particularly informative for cosegregation analysis of OI in Italian kindreds.
authors.affiliation: Istituto di Scienze Biologische, Facoltà di Medicina e Chirurgia, Università di Verona, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Mottes
authors.forename: L
authors.initials: L
authors.lastname: Cugola
authors.forename: N
authors.initials: N
authors.lastname: Cappello
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
mesh_terms: D000328:Adult; D003094:Collagen / Q000235:genetics*; D003434:Crossing Over, Genetic; D005787:Gene Frequency; D005799:Genes, Dominant; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008297:Male; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011347:Procollagen / Q000235:genetics
chemical_list: D011347:Procollagen; D003094:Collagen