肿瘤坏死因子-α-308基因多态性与强直性脊柱炎相关性研究  

Polymerase chain reaction analysis for the tumor necrosis factor alpha-308 (G>A) gene polymorphism in relation to ankylosing spondylitis

作　　者：林经安[1] 叶德富[2] 陈君敏[2] 郑伟清[1] 朱月永[2] 

机构地区：[1]福建医科大学附属第一医院中心实验室,福州350005 [2]福建医科大学附属第一医院风湿病科,福州350005

出　　处：《中华风湿病学杂志》2003年第7期420-422,共3页Chinese Journal of Rheumatology

摘　　要：目的　探讨肿瘤坏死因子 (TNF) α基因多态性与强直性脊柱炎 (AS)的相关性。方法　采用等位基因特异引物聚合酶链反应 (PCR)方法 (allele specificpolymerasechainreaction)对 98例汉人AS患者TNF α 30 8位基因进行TNF1和TNF2基因型检测 ,并与 70名正常人对照比较。结果　TNF的各基因型频率在AS中分别为 37% (TNF1)、10 % (TNF2 )和 5 3% (杂合型 ) ,在对照者中分别为 6 7% ,3%和 30 % ,二组之间的基因型频率分布的比较 ,差异有显著性 (χ2 =15 73,P <0 0 0 1) ;TNF1和TNF2的等位基因频率在AS中分别为 6 3%和 37% ,在对照者中分别为 82 %和 18% ,二组比较差异有显著性 (χ2 =9 0 5 3,P <0 0 5 ;OR =2 6 8,95 %可信区间为 1 394～ 5 135 ) ,AS患者TNF2等位基因频率明显高于对照组等位基因频率。结论　TNF α 30 8基因多态性与AS相关联 ,TNF2增加AS的易感性 ;等位基因特异引物PCR方法是一种简单、有效、结果可靠的检测TNF α 30Objective To investigate the association between tumor necrosis factor α (TNF α) gene polymorphism and ankylosing spondylitis (AS).Methods Genomic DNA from 98 Chinese AS patients and 70 ethnically matched controls were typed for TNF(308) polymorphism by allele specific polymerase chain reaction (AS PCR).Results The TNF genotypes in AS patients were respectively TNF1 homozygote 37%,TNF2 homozygote 10% and TNF1 and TNF2 heterozygote 53%.While TNF genotypes in controls group were respectively TNF1 homozygote 67%,TNF2 homozygote 3% and TNF1 and TNF2 heterozygote 30%.Significant difference was found in the distribution of TNF 308 genotype between both groups ( χ 2=15 73, P <0 001).The frequencies of TNF alleles in AS patients were 63% for TNF1 and 37% for TNF2,while they were 82% for TNF1 and 18% for TNF2 in the control group.TNF2 allele frequency in AS patients was significantly increased compared with the control ( χ 2=9 053, P <0 05;OR=2 68,95% CI 1 394～5 135).Conclusion There is a strong association between the TNF α gene polymorphism and ankylosing spondylitis.TNF2 gene may play a role in AS susceptibility;allele specific polymerase chain reaction is a simple and specific method for the detection of TNF α 308 gene polymorphism.

关 键 词：肿瘤坏死因子-α-308基因多态性 强直性脊柱炎 相关性研究 聚合酶链反应 

分 类 号：R593.23[医药卫生—内科学]