title: [Analyses of coding sequence point mutation and polymorphism of TGFBI gene in Chinese patients with keratoconus].
abstract: OBJECTIVE
  To investigate the point mutations and polymorphisms of transforming growth factor beta-induced gene (TGFBI) in Chinese patients with keratoconus and discuss the relationship between the feature of gene mutations and single nucleotide polymorphisms of TGFBI gene and keratoconus.
  
  
  METHODS
  Polymerase chain reaction single strand conformation polymorphism and DNA direct sequencing were performed in 30 keratoconus cases and 30 healthy controls. All 17 exons of the TGFBI gene were analyzed for point mutations and single nucleotide polymorphisms.
  
  
  RESULTS
  Totally two heterozygous nucleotide changes were identified in exon 12 of the TGFBI gene. The codon 535 is changed from GGA to TGA in 1 patient, leading to a substitution of glycine to a stop codon at the protein level (G535X). The codon 540 is changed from TTT to TTC in 2 patients and 1 control individual, resulting in a nonsense mutation (F54F), and is a single nucleotide polymorphism of the gene.
  
  
  CONCLUSIONS
  Mutation and polymorphisms of the TGFBI gene were detected in Chinese patients with keratoconus in this study. The results suggest that TGFBI gene might play an important role in the pathogenesis of keratoconus.
authors.affiliation: Taizhou Eye Hospital, Taizhou, Zhejiang, 138000 P. R. China.
authors.forename: Tao
authors.initials: T
authors.lastname: GUAN
authors.forename: Zhang-wei
authors.initials: ZW
authors.lastname: MA
authors.forename: Shi-ping
authors.initials: SP
authors.lastname: DING
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002681:China; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005998:Glycine / Q000172:deficiency / Q000235:genetics; D006801:Humans; D007640:Keratoconus / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA / Q000379:methods; D016212:Transforming Growth Factor beta / Q000235:genetics*; D055815:Young Adult; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D005998:Glycine; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein