新疆维吾尔族、汉族人群TNF-α基因多态性与分泌量的相关性研究

TNF-α Gene Polymorphisms and Contents Relationship Between Han and Uygur in Xinjiang

目的探讨肿瘤坏死因子-α-1031C/T、-863A/C、-857C/T、-308A/G位点基因多态性在汉族和维吾尔族间的差异及与肿瘤坏死因子-α分泌量的关联。方法采用聚合酶链反应及直接基因测序法比较121汉族与126维吾尔族健康人群基因型、等位基因频率和单倍体频率的差异。ELISA法测定两民族人群血清肿瘤坏死因子-α分泌水平。结果肿瘤坏死因子-α基因-1031C/T位点CC、CT、TT基因型频率分别为汉族(4.96%,35.54%,59.50%),维吾尔族(3.17%,27.78%,69.05%);-863A/C位点AA、AC、CC基因型频率分别为汉族(4.13%,28.93%,66.94%),维吾尔族(0.79%,23.02%,76.19%);-857C/T位点CT、TT、CC基因型频率分别为汉族(26.45%,0.00%,73.55%),维吾尔族(27.78%,2.38%,69.84%);-308A/G位点AA、AG、GG基因型频率分别为汉族(0.83%,9.09%,90.08%),维吾尔族(2.38%,17.46%,80.16%);连锁单倍体TCCA为高分泌型,CCCA为低分泌型。结论血清肿瘤坏死因子-α的分泌水平在两民族间存在差异并受连锁单倍体影响;肿瘤坏死因子-α-308A/G位点基因型频率和等位基因频率在汉族和维吾尔族人群间的分布均有显著性差异,提示新疆维吾尔族人群基因分布与汉族人群不同的特点。

OBJECTIVE To investigate the TNF-α gene promoter TNF-α-1031C/T,-863A/C,-857C/T,-308A/G polymorphism in difference between Han and Uygur, while gene polymorphism relationship with TNF-ct contents. METHODS Using polymerase chain reaction and direct gene sequencing compare 121 cases of Han and 126 cases of Uygur healthy people the differences in genotype, allele frequency and haplotype frequencies. Two ethnic populations of serum TNF-α contents were measured by ELISA. RESULTS The CC, CT, TT frequency of TNF-α-1031 loci are Han （4. 96% ,35. 54% ,59. 50% ） and Uygur（3.17% ,27. 78% ,69. 05% ） respectively; the AA,AC,CC frequency of TNF-ct-863 loci are Han （4. 13% ,28.93% ,66. 94% ） and Uygur （0. 79% ,23.02% ,76. 19% ） respectively; the CT,TI＇,CC frequency of TNF-α-857 loci are Han （26.45% ,0. 00% 73.55% ） and Uygur （27. 78% ,2. 38% ,69. 84% ） respectively; the AA, AG, GG frequency of TNF-α-308 loci are Han （ 0. 83% , 9.09% , 90. 08% ） and Uygur （ 2. 38% , 17.46% , 80. 16% ） respectively; TCCA is high-producer-type, CCCA is low-producer-type. CONCLUSION The level of TNF-α in serum was signifieant difference in Han and Uygur, it can be regulated by genetics. TNF-α gene in loei of -308A/G has significant differences in genotypes and alleles frequency in Han and Uygur, show the characteristics of gene distribution in Xinjiang Uygur population.