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目的探讨TNFα基因-308G>A和LTA基因252A>G多态性对PD发病潜在影响。方法利用Pyrosequencing技术对114例我国汉族散发性帕金森病(Parkinson’s disease,PD)患者和133例正常对照进行TNFα-308G>A和LTA252A>G突变位点分析。结果病例组TNFα-308突变型(G/A+A/A)和野生型(G/G)阳性率与对照组相等,差异无统计学意义(χ2=3.46,P=0.0627)。病例组LTA252突变型(A/G+G/G)阳性率稍高于对照组,差异无统计学意义(χ2=0.28,P=0.5999)。单倍体型分析表明,TNFα-308杂合突变型(G/A)患者LTA252位点均为突变型(A/G或G/G)。结论TNFα-308和LTA252位点可能不是我国散发性PD发病易感因素。
Objective To investigate the potential effects of TNFα gene -308G> A and LTA gene 252A> G polymorphisms on the pathogenesis of PD. Methods Pyrosequencing was used to analyze the TNFα-308G> A and LTA252A> G mutations in 114 Han Chinese patients with Parkinson’s disease (PD) and 133 normal controls. Results The positive rate of TNFα-308 mutant (G / A + A / A) and wild type (G / G) was equal to that of the control group, with no significant difference (χ2 = 3.46, P = 0.0627). The positive rate of LTA252 mutation (A / G + G / G) in case group was slightly higher than that in control group (χ2 = 0.28, P = 0.5999). Haplotype analysis showed that all the LTA252 loci were heterozygous (A / G or G / G) in TNFα-308 heterozygous mutant (G / A). Conclusions TNFα-308 and LTA252 sites may not be susceptible factors for sporadic PD in our country.