【摘要】 目的探讨肿瘤坏死因子α基因多态性与强直性脊柱炎(AS)发生的易感关系。方法采用序列特异引物PCR方法(SSP-PCR)检测了136例AS患者和127例正常人的TNF-α5旁侧-857C/T,-863C/A和-1031T/C三个基因多态性位点,并比较了部分不同地区人群之间的基因型与等位基因频率。结果AS患者TNF-α-857基因型(CC,TC和TT)分布频率分别是64.0%,35.3%和0.7%;TNF-α-863基因型(CC,CA和AA)分布频率分别是68.4%,30.0%和1.5%;TNF-α-1031基因型(TT,TC和CC)分布频率分别是66.2%,32.4%和1.5%;TNF-α-857等位基因频率C和T分别是81.6%和18.8%;TNF-α-863等位基因频率C和A分别是83.5%和16.5%;TNF-α-1031等位基因频率T和C分别是:82.4%和17.6%;正常对照者TNF-α-857基因型(CC,TC和TT)分布频率分别是70.9%,27.6%和1.6%;TNF-α-863基因型(CC,CA和AA)分布频率分别是68.5%,29.9%和1.6%;TNF-α-1031基因型(TT,TC和CC)分布频率分别是69.3%,29.1%和1.6%;TNF-α-857等位基因频率C和T分别是84.6%和15.4%;TNF-α-863等位基因频率C和A分别是83.5%和16.5%;TNF-α-1031等位基因频率T和C分别是:83.9%和16.1%;AS患者和正常对照者之间的基因型分布和等位基因频率比较差异无显著性,(P>0.05);本文中国汉族人TNF-α-857(C/T),-863(C/A),-1031(T/C)位点基因多态性分布同亚洲的日本、韩国人群基本一致,差异无显著性;-863(C/A),-1031(T/C)位点基因多态性分布同欧洲的英国、荷兰、瑞典人群比较差异也无显著性,但欧洲人群的TNF-α-857T的等位基因频率明显高于亚洲人群,差异有显著性(P<0.05)。结论TNF-α-857,-863和-1031三个基因多态性位点可能不是中国人患AS的主要易感位点基因。更多还原

【Abstract】 Objective:To investigate polymorphism in the 5′-flanking region of tumor necrosis factor(TNF)-alpha gene in relation to susceptibility to ankylosing spondylitis(AS).Methods:Genomic DNA from 136 AS patients with B27 positive and 127 matched healthy controls were analyzed to TNF-α gene three polymorphisms loci(-857,-863 and-1031) by Sequence-specific primer polymerase chain reaction(SSP-PCR) and we compared the genotype and allele frequency of TNF-α in different populations from different area.Results:In AS patients TNF-α-857 genotype CC,CT and TT are 64.0%,35.3% and 0.7% respectively,TNF-α-863 genotype CC,CA and AA are 68.4%,30.0%and 1.5% respectively,and TNF-α-1031 genotype TT,TC and CC are 66.2%,32.4% and1.5% respectively;The allele frequency of C and T in TNF-α-857 are 81.6% and18.8% respectively.The allele frequency of C and A in TNF-α-863 are 83.5% and 16.5% respectively.The allele frequency of T and C in-1031 are 82.4% and 17.6% respectively;In healthy controls TNF-α-857 genotype CC,CT and TT are 70.9%,27.6% and 1.6% respectively,TNF-α-863 genotype CC,CA and AA are 68.5%,29.9% and 1.6% respectively,and TNF-α-1031 genotype TT,TC and CC are 69.3%,29.1% and 1.6% respectively;The allele frequency of C and T in TNF-α-857 are 84.6% and 15.4% respectively.The allele frequency of C and A in TNF-α-863 are 83.5% and 16.5% respectively.The allele frequency of T and C in-1031 are 83.9% and 16.1% respectively,No significant differences were found in the distribution of TNF-α gene three loci genotypes and allele frequencies between AS patients and controls;The distribution of TNF-α gene polymorphism in Chinese Han population is almost the same as it is in Japanese and Koreans populations,The distribution of TNF-α-863 and-1031 genotypes and allele frequency in Chinese Han population is almost the same as it is in United Kingdom,Dutch and Sweden population,but significant difference was found in the distribution of TNF-α –857T allele frequencies between Asia populations(Chinese,Japanese and Koreans) and Europe populations(United Kingdom,Dutch and Sweden).Conclusion:Our results indicate that the there may be no association of the TNF-α gene three polymorphisms loci(-857,-863 and-1031) with ankylosing spondylitis in Chinese Han population.更多还原