title: [The SNPs analysis of encoding sequence of interacting factor gene in Chinese population].
abstract: OBJECTIVE
  To screen the variations of TG interacting factor(TGIF) gene in encoding sequence in Chinese high myopia patients and normal controls and to analyze the SNPs of TGIF gene encoding sequence in Chinese population.
  
  
  METHODS
  Genomic DNA was collected from 204 probands with high myopia and 112 unrelated persons without high myopia. The coding sequences of TGIF gene in 316 subjects were analyzed by using exon-by-exon PCR heteroduplex-SSCP analysis and sequencing.
  
  
  RESULTS
  There were 3 types of SNP and one single nucleotide mutation in the coding sequence of TGIF gene: IVS-2 nt350 G --> T(36/204), codon140 CCA --> CCG; Pro140Pro codon163 CCG --> CTG;Pro163Leu and codon126 GTG --> GCG; Val126Ala(1/204). The SNPs of codon140 CCA --> CCG and codon163 CCG --> CTG were composed of 3 alleles and 5 genotypes in Chinese population which abide by Hardy-Weinberg law.
  
  
  CONCLUSIONS
  There was no evidence to prove that mutations in the TGIF gene are responsible for the high myopia in Chinese. Three SNPs of coding sequence TGIF gene in Chinese population abide by Hardy-Weinberg law.
authors.affiliation: Ophthalmology Center Sun Yat-sen University of Medical Sciences, Guangzhou, Guangdong, 510060 PR China.
authors.forename: Jiang
authors.initials: J
authors.lastname: Li
authors.forename: Qing-jiong
authors.initials: QJ
authors.lastname: Zhang
authors.forename: Xue-shan
authors.initials: XS
authors.lastname: Xiao
authors.forename: Jia-zhang
authors.initials: JZ
authors.lastname: Li
authors.forename: Feng-sheng
authors.initials: FS
authors.lastname: Zhang
authors.forename: Shi-qiang
authors.initials: SQ
authors.lastname: Li
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.forename: Tuo
authors.initials: T
authors.lastname: Li
authors.forename: Xiao-yun
authors.initials: XY
authors.lastname: Jia
authors.forename: Li
authors.initials: L
authors.lastname: Guo
authors.forename: Xiang-ming
authors.initials: XM
authors.lastname: Guo
mesh_terms: D002681:China; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009216:Myopia / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; D012097:Repressor Proteins; C097504:TGIF1 protein, human; D004247:DNA