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目的研究家系内慢性乙型肝炎病毒基因变异特征及与HLA-II类分子基因多态性的关系。方法采用PCR扩增和产物测序检测HBV前C区1896位及BCP区1762/1764位变异,分析家系内慢性HBV感染者121例(实验组)病毒变异特征及与非家系慢性乙肝患者83例(对照组)病毒变异频率差异;用PCR/SSP对家系内慢性HBV感染者的HLA-DQA1和DQB1等位基因多态性进行测定;分析HLA-II类分子基因多态性与家系内慢性乙型肝炎病毒基因变异的关系。结果实验组前C区1896位变异、BCP区1762/1764位双变异及联合变异率均高于对照组;HLA-DQA1*0501和DQB1*0301等位基因频率和家系慢性HBV感染者前C区1896位、BCP区1762/1764位及联合变异有关;母亲为第一代的感染家系中,子女的前C区1896位及BCP区1762/1764位变异与母亲是否有该位点变异差异无显著性。结论家系感染HBV患者中,HBV前C区1896位、BCP区1762/1764位双突变及联合变异频率明显高于无家系感染的慢性乙型肝炎患者;家系内感染HBV前C区1896位、BCP区1762和1764位变异并非都是由上一代遗传或传播而来,而主要是与个体的免疫状况有关。
Objective To study the genetic variation of chronic hepatitis B virus in pedigrees and its relationship with HLA-II polymorphism. Methods The genotypes of 1896 and 1762/1764 in the pre-HBV preclinical C and 1762/1764 BCP were detected by PCR amplification and sequencing. The variation of the virus in 121 cases (experimental group) with chronic HBV infection in pedigrees and 83 cases with non-familial chronic hepatitis B Control group). The polymorphisms of HLA-DQA1 and DQB1 alleles were detected by PCR / SSP in pedigrees with chronic HBV infection. The polymorphisms of HLA-class II alleles and the polymorphisms of chronic hepatitis B Relationship between hepatitis virus gene variation. Results The 1896-bp mutation in the C region of the experimental group and the 1762/1764-bp mutation in the BCP region were higher than those in the control group. The frequency of HLA-DQA1 * 0501 and DQB1 * 0301 alleles and the pre-C region 1896, BCP 1762/1764 and associated mutations; the mother of the first generation of infected pedigrees, the children of pre-C area 1896 and BCP 1762/1764 bit mutation with the mother whether the difference was not significant Sex. Conclusions Among the pedigrees with HBV infection, there are 1896 HBV pre-C region, 1762/1764 double-mutation in BCP region and the frequency of co-mutation were significantly higher than those in non-HIV-infected chronic hepatitis B patients. Not all of the 1762 and 1764 mutations in the district are inherited or transmitted by the previous generation, but are mainly related to the individual’s immune status.