摘要
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 。
Objective To detect the single nucleotide polymorphism (SNP) of trabecular meshwork induced glucocorticoid response protein (TIGR) gene and to investigate the association between SNP and primary open angle glaucoma (POAG) in Chinese Han population. Methods High throughput conformation sensitive gel electrophoresis (HTCSGE) and fluorescent labeling automated sequencing method were used to screen and identify the SNPs of TIGR in 82 unrelated patients with POAG. Restriction endonuclease analysis was used to detect the SNPs of TIGR in 150 sex and age matched unrelated control subjects without POAG. The frequencies of genotypes and alleles of each SNP between the two groups were compared by chi square test. Results A total of six SNPs were identified in TIGR gene with a length of 2172 bp, including all coding regions and part of promoter, introns and 3′UTR region: 1 83(G→A), G12R, R46X, R76K, IVS2+35(A→G), and T353I. Significant differences were found in frequencies of the genotype TC and the allele T of T353I between POAG patients and control subjects The frequency of heterozygote TC was 12 20% in POAG patients, significantly higher than that in control subjects (3 33%, χ 2=6 885, P =0 009, OR =4 028, OR 95% CI =1 327～12 223). The frequency of the allele T was 6 10% in POAG patients, significantly higher than that in control subjects (1 67%, χ 2=6 655, P =0 010). No significant difference was found between the two groups in frequencies of genotypes and alleles of the other SNPs. Conclusion The T353I polymorphism of TIGR gene is associated with POAG in Chinese Han population.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2002年第11期743-747,共5页
National Medical Journal of China
基金
香港特别行政区工业署研究基金资助项目(MD970 92 )
