title: Novel polymorphisms in the beta ig-h3 gene.
abstract: We found three novel polymorphisms in the beta ig-h3 gene in patients with gelatinous drop-like corneal dystrophy: (1) a substitution from CTC to CTT at codon 472 that did not alter an amino acid; (2) a substitution from GCG (Ala) to GTG (Val) at codon 480; and (3) a substitution from C to T in intron 10, three nucleotides upstream from the acceptor site of exon 11. The allelic frequencies of the C:T polymorphism at codon 472 and in intron 10 in the Japanese population were estimated to be 0.778:0.222 and 0.954:0.046, respectively. Although the codon 480 substitution was not observed in 54 unrelated healthy Japanese people, the substation did not co-segregate with the disease phenotype, suggesting that this was a rare, non-deleterious alteration.
authors.affiliation: Department of Ophthalmology, Osaka University Medical School, Suita, Japan. moto@clgene.med.osaka-u.ac.jp
authors.forename: M
authors.initials: M
authors.lastname: Tsujikawa
authors.forename: Y
authors.initials: Y
authors.lastname: Shimomura
authors.forename: M
authors.initials: M
authors.lastname: Okada
authors.forename: S
authors.initials: S
authors.lastname: Yamamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Tano
authors.forename: H
authors.initials: H
authors.lastname: Kurahashi
mesh_terms: D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D016326:Extracellular Matrix Proteins; D005787:Gene Frequency; D005808:Genes, Recessive; D006801:Humans; D009363:Neoplasm Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D009363:Neoplasm Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein