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目的探讨汉族人维生素D受体(vitamin D receptor,VDR)基因BsmⅠ、FokⅠ、TaqⅠ、ApaⅠ位点基因多态性与慢性丙型病毒性肝炎(简称丙肝)抗病毒治疗效果的相关性。方法应用聚合酶链反应-MassARRAY(PCR-MassARRAY)基因型分析技术检测VDR基因BsmⅠ、FokⅠ、TaqⅠ及ApaⅠ的多态性在71例获得持续性病毒学应答(SVR)患者(SVR组)及53例非SVR(non-SVR)患者(non-SVR组)中的分布,并进行基因型分析。结果 VDR基因(BsmⅠ、FokⅠ、TaqⅠ、ApaⅠ)频率分布符合Hardy-Weinberg平衡,具有群体代表性。其中FokⅠ、TaqⅠ以及ApaⅠ的等位基因和基因型频率在两组患者间差异无统计学意义。BsmⅠ基因型频率在两组间分布差异有统计学意义,GA基因型在SVR组患者中频率更高(χ~2=3.967,P=0.046)。BsmⅠ、TaqⅠ和ApaⅠ位点基因之间存在连锁不平衡。BsmⅠ与TaqⅠ的连锁不平衡系数(D’)=1.000,相关系数(r~2)=0.741;BsmⅠ与ApaⅠ的D’=1.000,r~2=0.082;TaqⅠ与ApaⅠ的D’=0.829,r~2=0.076。各单倍型的组间差异无统计学意义。结论 VDR BsmⅠ基因突变可能与慢性丙肝抗病毒治疗效果相关。
Objective To investigate the association between gene polymorphisms of BsmⅠ, FokⅠ, TaqⅠ and ApaⅠ in Han nationality and the effect of antiviral therapy on chronic hepatitis C virus (HCV). Methods Polymorphisms of BsmⅠ, FokⅠ, TaqⅠ and ApaⅠ of VDR gene were detected by PCR-Mass-Rayray genotyping in 71 patients with SVR (SVR group) and 53 Non-SVR patients (non-SVR group) were genotyped and genotyped. Results The frequency distributions of VDR genes (BsmⅠ, FokⅠ, TaqⅠ, ApaⅠ) were in accordance with Hardy-Weinberg equilibrium and had population representativeness. The allele and genotype frequencies of FokⅠ, TaqⅠ and ApaⅠ were not significantly different between the two groups. There was significant difference in the frequency of BsmI genotypes between the two groups. GA genotype frequency was higher in patients with SVR (χ ~ 2 = 3.967, P = 0.046). Bsm Ⅰ, Taq Ⅰ and Apa Ⅰ locus linkage exists between the imbalance. The linkage disequilibrium coefficient between BsmⅠ and TaqⅠ (D ’) = 1.000, the correlation coefficient (r ~ 2) = 0.741; D’ = 1.000 and r ~ 2 = 0.082 for BsmⅠ and ApaⅠ; ~ 2 = 0.076. The haplotype differences between the groups were not statistically significant. Conclusion The mutation of BsmⅠ gene in VDR may be related to the treatment effect of chronic hepatitis C virus.