title: Haplotype frequencies of the collagen type-I genes in the Italian population.
abstract: We have determined the frequencies of six restriction fragment length polymorphisms (RFLPs) of type-I collagen genes in a random sample of 100 subjects. Alpha 1 gene (COL1A1) DNA polymorphisms, FG2/MspI, 2FC6/RsaI, and NST70/RsaI, had polymorphism information content (PIC) values of 0.35, 0.32, and 0.26, respectively. Alpha 2 gene (COL1A2) RFLPs, NJ3/EcoRI, Hf32/RsaI, and Hf32/MspI had PIC values of 0.36, 0.35, and 0.25, respectively. The combined haplotype PIC values were 0.71 at the COL1A1 locus and 0.73 for COL1A2. Two COL1A1 and two COL1A2 RFLPs were more polymorphic than in the English population, making them better markers for the analysis of Italian families affected by osteogenesis imperfecta and some other inherited collagen diseases.
authors.affiliation: Istituto di Scienze Biologiche, Università di Verona, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Mottes
authors.forename: L
authors.initials: L
authors.lastname: Cugola
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
mesh_terms: D015139:Blotting, Southern; D003094:Collagen / Q000235:genetics*; D004739:England; D005787:Gene Frequency; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007558:Italy; D010013:Osteogenesis Imperfecta / Q000208:ethnology / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D011897:Random Allocation
chemical_list: D003094:Collagen