[The SNPs analysis of encoding sequence of interacting factor gene in Chinese population].
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.
Li
Jiang
J
Ophthalmology Center Sun Yat-sen University of Medical Sciences, Guangzhou, Guangdong, 510060 PR China.
Zhang
Qing-jiong
QJ
Xiao
Xue-shan
XS
Li
Jia-zhang
JZ
Zhang
Feng-sheng
FS
Li
Shi-qiang
SQ
Li
Wei
W
Li
Tuo
T
Jia
Xiao-yun
XY
Guo
Li
L
Guo
Xiang-ming
XM
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*
D018398:Homeodomain Proteins; D012097:Repressor Proteins; C097504:TGIF1 protein, human; D004247:DNA