摘要
目的通过检测人巨细胞病毒(HCMV)感染患儿白介素-18(IL-18)基因启动子区-607A/C、-137G/C位点单核苷酸多态性(SNPs),探讨其与HCMV感染的关系。方法采用聚合酶链反应结合限制性片段长度多态性(PCR-RFLP)方法检测150例HCMV感染患儿和100名健康对照者IL-18基因启动子区-607A/C、-137G/C位点基因多态性,产物测序法验证RFLP分型。结果 PCR-RFLP法分别测出IL-18启动子区-607A/C、-137G/C位点野生型和突变型纯合子和杂合子,与直接测序所得基因型相符;各基因型多态性分布频率均符合遗传学的Hardy-Weinberg平衡定律;患儿组-607A/C中C、A等位基因频率分别为0.480、0.520,对照组分别为0.490、0.510;患儿组-137G/C中G、C等位基因频率分别为0.867、0.133,对照组分别为0.820、0.180;两组-607A/C和-137G/C位点基因型频率及等位基因频率比较,差异均无统计学意义。结论 PCR-RFLP可用于IL-18启动子区-607A/C、-137G/C位点SNPs的检测;其基因多态性与婴幼儿HCMV感染无关。
OBJECTIVE To detect the single nucleotide polymorphisms（SNPs）at position-607A/C and-137G/C of interleukin 18（IL-18）gene promoter region in infants with human cytomegalovirus（HCMV）infection and explore its correlation with the HCMV infection.METHODS The single nucleotide polymorphisms at position-607A/C and-137G/C of IL-18 gene promoter region in 150 infants infected with HCMV and 100 normal healthy subjects were detected by polymerase-chain-reaction combined with restriction fragment length polymorphism（PCR-RFLP）,and the RFLP results were further confirmed by sequencing.RESULTS Wild type and mutant homozygote and heterozygote could be detected at position-607A/C and-137G/C of IL-18 gene promoter region by PCR-RFLP,which were identified accordantly with direct DNA sequencing.The distribution of the frequencies of polymorphisms of the genotypes were in line with Hardy-Weinberg equilibrium.The allele frequencies of the genotype-607A/C were 0.480 and 0.520 for the infants infected with HCMV,and 0.490 and 0.510 for the normal controls;and the allele frequencies of the genotype-137G/C were 0.867 and 0.133 for the infants infected with HCMV,and 0.820 and 0.180 for the normal controls.There was no significant difference in the genotype or allele distribution at position-607A/C and 137G/C of IL-18 gene promoter region between the two groups.CONCLUSIONPCR-RFLP can be applied for the analysis of the polymorphisms at position-607A/C and-137G/C of IL-18 gene promoter region,which are not associated with the HCMV infection in the infants.
出处
《中华医院感染学杂志》
CAS
CSCD
北大核心
2015年第2期241-243,共3页
Chinese Journal of Nosocomiology
基金
温州市科技基金资助项目(Y20100107)
