广东汉族人群肿瘤坏死因子基因多态性与多发性硬化的相关性研究

Association between Polymorphisms of TNF Genes and Multiple Sclerosis (MS) in Han Nationality of Guangdong

目的分析广东地区汉族人群TNF-α和TNF-β基因多态性分布,探讨TNF基因多态性与多发性硬化(MS)的关系。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测68例MS病人和106名无血缘关系的广东籍健康汉族人的TNF-α和TNF-β基因型。结果TNF-α、TNF-β各等位基因型频率在MS组和正常人组比较无显著差异(P均>0.05),病例组TNF-α基因A纯合基因型和A等位基因频率分别为4.4%和13.9%,正常对照组分别为0和0.085。病例组TNF-β基因A纯合基因型和A等位基因频率分别为7.4%和39.7%,而正常对照组分别为16.98%和0.458。结论中国广东汉族人群存在TNF-α基因G-308A和TNF-βG+252A基因型分布,等位基因频率低于西方,与亚洲相似。从目前调查的例数看,广东汉族人群TNF-α基因G-308A和TNF-β基因G+252A基因多态性与广东人群中MS发病无关。

Objective To investigate the polymorphisms of TNF-α and TNF-β genes in Guangdong population, and to explore the association of these genes with multiple sclerosis. Method MS diagnosis was based on Poser （1983） criteria. 106 normal healthy individuals and 68 patients with multiple sclerosis of Han nationality from the same Guangdong region were studied. TNF-α G-308A and TNF-β G＋252A were genotyped with polymerase chain reaction-restficton fragment length polymorphism. Result The frequency and distribution of TNF-α G-308A and TNF-β G＋252A are in accordance with the Hardy-Weinberg equilibrium. The positive rate of genotype A and the frequency of allele A of TNF-α were 4.4% and 13.9% in the MS group; and 7.4% and 39.7% in the healthy subjects. The positive rate of the genotypo A and the gene frequency of allele A of TNF-β were 0 and 8.5% in MS group; and 17.0% and 45.8% in the health subjects. The difference of the genotypo between the normal subject and MS patients was not significant （P 〉 0.05）. Conclusion The genotype distribution and allele frequencies of TNF-α G-308A and TNF-β G＋252A in the people of Han nationality in Guangdong region are lower than in the Western population. The gene polymorphisms of TNF-α G-308A and TNF-β G＋252A are not associated with MS.