title: A missense mutation in ColA1 in Jewish Israeli patient with mild osteogenesis imperfecta, detected by DGGE.
abstract: Osteogenesis imperfecta (OI) underlies germline mutations in either Col1A1 or Col1A2. Here we describe, for the first time, the use of the denaturing gradient gel electrophoresis (DGGE) technique for mutation analysis of the Col1A1 gene. By employing this technique, we identified a point mutation in a young Jewish Israeli patient with mild OI. The missense mutation, a G to A alteration at position 888, result in a Gly to Arg substitution at codon 79. Furthermore, the patient's mother, who was clinically labeled as OI based solely on the fact that she has blue sclera, was found not to carry this mutation in two different tissues. We suggest that blue sclera alone should not be used as a parameter for the diagnosis of OI, and that DGGE can be effectively used for mutation analysis of the Col1A1 gene.
authors.affiliation: Oncogenetics Laboratory, Susanne Levy Institute of Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
authors.forename: G
authors.initials: G
authors.lastname: Gat-Yablonski
authors.forename: L
authors.initials: L
authors.lastname: Ries
authors.forename: D
authors.initials: D
authors.lastname: Lev
authors.forename: B
authors.initials: B
authors.lastname: Goldman
authors.forename: E
authors.initials: E
authors.lastname: Friedman
mesh_terms: D000328:Adult; D001483:Base Sequence; D003094:Collagen / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics; D008297:Male; D010013:Osteogenesis Imperfecta / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012590:Sclera / Q000002:abnormalities
chemical_list: D017931:DNA Primers; D003094:Collagen