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目的 探讨中国汉族人中小梁网糖皮质激素诱导反应蛋白 (TIGR)基因的单核苷酸多态性 (SNP)及其与原发性开角型青光眼 (POAG)发病的关系。方法 应用高通量构象敏感性凝胶电泳(HTCSGE)和荧光标记自动测序法筛选和鉴定 82例POAG患者TIGR基因的SNP ,用限制性内切酶酶切分析技术检测 15 0例对照组人群相应的SNP。结果 TIGR基因所有编码区及部分非编码区共检出6种SNP :1 83(G→A)、G12R、R4 6X、R76K、IVS2 +35 (A→G)和T35 3I。其中 ,T35 3I的基因型TC和等位基因T在POAG患者和对照人群中的分布差异有显著意义 ,POAG患者中基因型TC和等位基因T的频率分别为 12 2 %和 6 1% ,均显著高于对照组的 3 3% (χ2 =6 885 ,P =0 0 0 9)和 1 7% (χ2 =6 6 5 5 ,P=0 0 10 )。其余 5种SNP各基因型和等位基因频率在两组中差异均无显著意义。结论 TIGR基因T35 3I多态性可能与我国POAG发病相关 ,提示TIGR基因是中国汉族人POAG的相关基因
Objective To investigate the SNP of glucocorticoid inducible protein reactive protein (TIGR) gene in trabecular meshwork in Chinese Han population and its relationship with the pathogenesis of primary open angle glaucoma (POAG). Methods The SNPs of TIGR gene in 82 patients with POAG were screened and identified by high-throughput conformation-sensitive gel electrophoresis (HTCSGE) and fluorescent-labeled automatic sequencing. The restriction endonuclease digestion Of SNPs. Results Six SNPs were detected in all coding regions and partial non-coding regions of TIGR gene: 1 83 (G → A), G12R, R4 6X, R76K, IVS2 +35 (A → G) and T35 3I. Among them, the genotype TC and allele T of T35 3I were significantly different in POAG patients and control subjects. The frequencies of genotype TC and allele T in POAG patients were 12 2% and 61% respectively, Were significantly higher than those in the control group (33%) (χ2 = 6 885, P = 0 0 0 9) and 17% (χ2 = 6 6 5 5, P = 0 0 10). The other five SNP genotypes and allele frequencies in the two groups showed no significant difference. Conclusion T353I polymorphism of TIGR gene may be related to the pathogenesis of POAG in our country, suggesting that TIGR gene is the related gene of Chinese POAG