【摘要】 目的了解中国汉族人信号肽酶复合物(SPC)21基因启动区单核苷酸多态性(SNP)的出现情况,探讨其与HBV感染转归的关系。方法收集40例健康人、40例HBV持续感染者和23例HBV自限性感染者的全血并提取全基因组DNA,以PCR技术扩增SPC21启动区约1 200 bp的区域进行DNA序列分析。结果在各组样本中SPC21启动区的SNPs位点-933(A/C)、-885(G/T)、-779(C/T)和-596(C/T)均存在多态性,而在-1189、-1180和-966位点未见多态性。与GenBank登记情况比较显示,-885(G/T)和-779(C/T)的基因型分布与登记数据类似。生物信息学分析提示,-933(A/C)与-596(C/T)存在连锁关系。各SNP的基因型、等位基因和单体型的分布频率在健康人、持续感染者和HBV自限性感染者中的差异无统计学意义。结论在汉族人群中,SPC21启动区存在SNPs多态性,且有自身特点,但其基因型、等位基因和单体型分布与HBV感染转归无明显相关性。更多还原

【Abstract】 Objective To investigate the distribution of SNPs in SPC21 promoter region in healthy Chinese population,and to study their relationships with HBV infection outcome. Methods A total of 40 healthy adults, 23 self-limitedly HBV-infected patients and 40 persistently HBV infected patients from Han Chinese were recruited. Genomic DNA was extracted from the collected whole blood, and the interesting fragments were generated by PCR for DNA sequencing.Results There are 4 SNPs,-933(A/C),-885(G/T),-779(C/T) and-596(C/T) were found in the promoter of SPC21 gene among these Han Chinese populations. Compared with data in GenBank, 2 SNPs,-885(G/T) and-779(C/T) had similar distribution frequencies, 2 SNPs,-933(A/C) and-596(C/T) had complete linkage disequilibrium,and no polymorphisms were found in other 3 putative SNP sites,-1189,-1180 and-966. The distribution differences of genotypes, alleles and haplotypes of these SNPs were not statistically significant among groups of healthy individuals,self-limitedly infected patients and persistently infected patients. Conclusions There are SNPs in SPC21 promoter region in Chinese populations. They have some specialty in distributions of genotypes, alleles or haplotypes, but have no statistical correlation with HBV infection outcome.更多还原