【摘要】 目的研究巨细胞病毒(CMV)肝炎患儿IL-12p40 3′非翻译区rs3212227位点的基因型分布,探讨该位点的单核苷酸多态性与婴儿CMV肝炎发生的关系。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术和基因测序方法测定105例健康儿童及122例CMV肝炎患儿IL-12p40 3′非翻译区rs3212227位点基因型,采用双抗体夹心ELISA法、速率法和实时荧光定量聚合酶链反应(FQ-PCR)分别测定CMV肝炎患儿血清IL-12p40水平、ALT活性及尿HCMV DNA载量。结果 CMV肝炎组IL-12p40 rs3212227位点AA、AC、CC基因型分布频率分别为34.4%、41.8%、23.8%,正常对照组分别为47.6%、40.0%、12.4%,两组间CC基因型和非CC基因型之间频率分布差异有统计学意义(χ2=4.855,P<0.05,ORCC=2.207,95%CI:1.080~4.510)。CMV肝炎组IL-12p40 rs3212227位点等位基因A、C分布频率分别55.3%、44.7%,对照组分别为67.6%、32.4%,两组等位基因频率比较差异有统计学意义(χ2=7.168,P<0.01;ORA=0.593,95%CI:0.404~0.871;ORC=1.686,95%CI:1.149~2.475)。rs3212227位点不同基因型的CMV肝炎患儿之间血清IL-12p40水平、尿HCMV DNA载量(拷贝/毫升,lg)差异均有统计学意义(H=7.385、F=9.325,P均<0.05),CC基因型患儿血清IL-12p40水平低于AA基因型,尿液HCMV DNA载量高于AA基因型,不同基因型患儿之间血清ALT活性差异无统计学意义(P>0.05)。结论 IL-12p40 3′非翻译区rs3212227位点单核苷酸多态性与婴儿CMV肝炎的发生具有相关性,其中C等位基因可能是其遗传易感基因,携带C等位基因的个体可能更利于CMV病毒的复制。更多还原

【Abstract】 Objective To investigate the single nucleotide polymorphism(SNP) of IL-12p40 3′ untranslated region(3′ UTR) rs3212227 site in cytomegalovirus hepatitis infants,and find the association between IL-12p40 SNP and cytomegalovirus hepatitis in China.Methods We genotyped IL-12p40 rs3212227 SNP of 122 cytomegalovirus hepatitis infants and 105 healthy controls by PCR-RFLP.We also detected IL-12p40 level,ALT activity in serum and HCMV DNA in urinary of cytomegalovirus hepatitis infants.Results The frequency of AA,AC and CC genotype of IL-12p40 rs3212227 site were 34.4%,41.8% and 23.8% in CMV hepatitis infants,and the frequency were 47.6%,40.0% and 12.4% in control group.And there was significant difference in CC genotype and non-CC genotype frequency between the two grouops(χ2 =4.855,P<0.05,OR CC =2.207,95%CI:1.080~4.510).The frequency of A,C allele of IL-12p40 rs3212227 site were 55.3%,44.7% in CMV hepatitis infants,and were 67.6%,32.4% in control group.A significant difference was found in allele frequency distribution of IL-12p40 rs3212227 between the two groups(χ2 =7.168,P<0.01;OR A=0.593,95%CI:0.404~0.871;OR C =1.686,95%CI:1.149~2.475).There were signincant differences in HCMV DNA in urinary,IL-12p40 level in serum between AA,AC and CC genotype of CMV hepatitis infants(P<0.05),but there was no significant difference in ALT activity between the three genotype of CMV hepatitis infants.Conclusion There was a relationship between the SNP of IL-12p40 3′ UTR rs3212227 and the susceptibility to CMV hepatitis in infants.The infants with C allele and CC genotype are susceptible to develop CMV infection.更多还原