TG相互作用因子基因编码区域的单核苷酸多态在中国高度近视人群与正常人群中的分布

The SNPs analysis of encoding sequence of interacting factor gene in Chinese population

目的 筛查 TG相互作用因子 (TG interacting factor,TGIF)基因编码区域变异与中国高度近视人群的相关性及单核苷酸多态 (single nucleotide polymorphism,SNP)在中国人群中的分布特征。 方法 采用聚合酶链反应 -单链构象多态性检测 2 0 4例中国人高度近视先证者及 112名正常人的 TGIF基因所有编码外显子及两侧序列有无突变 ;对有突变的外显子区域进行克隆测序。结果 在 TGIF基因 3个外显子编码区域及两侧序列发现 3个 SNP和 1个单核苷酸突变 ,分别是 IVS-2 nt3 50 G→ T(3 6/ 2 0 4)、密码子 14 0 CCA→ CCG,Pro14 0 Pro、密码子 163 CCG→ CTG,Pro163 L eu及密码子 12 6GTG→ GCG,Val12 6Ala(1/ 2 0 4) ;其中密码子 14 0 CCA→ CCG、密码子 163 CCG→ CTG两个 SNP在中国人群中形成 3个等位基因和 5种基因型 ,符合 Hardy-Weinberg平衡定律。 结论 TGIF基因编码区域的变异与中国高度近视人群无相关性 ;TGIF基因编码区域密码子 14 0和 163的

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 &rarr T (36/204), codon140 CCA &rarr CCG; Pro140Pro, codon163 CCG &rarr CTG; Pro163Leu and codon126 GTG Val126Ala(1/204). The SNPs of codon140 CCA&rarrCCG and codon163 CCG&rarrCTG were composed of 3 alleles and 5 genotypes in Chinese population which abide by Hardy-Weinberg law. Conclusion: 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.