T细胞CD3ζ3′-UTR区域突变类型的特点

摘要

目的:分析CD3ζ3′-UTR区域的突变/SNP的类型情况,深入了解中国汉族健康人CD3ζ3′-UTR的突变/SNP特点.方法:利用RT-PCR,T载体克隆以及核苷酸测序等技术分析20例健康人外周血单个核细胞中CD3ζ3′-UTR突变/SNP突变类型等情况.结果:20例健康人外周血单个核细胞中CD3ζ3′-UTR区域共检出21种突变/SNP.CD3ζ3′-UTR区域的腺嘌呤、胸腺嘧啶、鸟嘌呤和胞嘧啶均发生不同频率的突变,依次为37.36%,16.48%,40.66%和5.50%.腺嘌呤的突变频率显著高于胸腺嘧啶和胞嘧啶(P均为0.00);鸟嘌呤的突变频率显著高于胸腺嘧啶和胞嘧啶(P均为0.00);胸腺嘧啶的突变频率显著高于胞嘧啶(P=0.02).CD3ζ3′-UTR区域缺失、转换和颠换突变检出频率依次为21.98%,35.16%和42.86%,缺失突变的频率显著低于转换和置换突变(P=0.05,P=0.02),转换/颠换比值为0.82.结论:首次报道中国健康人外周血单个核细胞中CD3ζ3′-UTR区域突变类型特点,T>C转换突变在中国汉族健康人CD3ζ3′-UTR区域的高频出现影响转换/颠换比.%Aim:Analysis mutation /SNP type in CD3ζ3′-UTR to deeply understand the characteristics of mutation /SNP in CD3ζ3′-UTR region among Chinese healthy individuals.Methods:RT-PCR,T vec-tor cloning and nucleotide sequencing technology was used to analysis the mutation /SNP in peripheral blood mononuclear cell (PBMC)from 20 cases of Chinese healthy individuals.Results:21 kind of mu-tation /SNP were detected in CD3ζ3′-UTR from PBMC of 20 Chinese healthy individuals.Mutations/SNP in adenine,thymine,guanine and cytosine were detected.The frequencies of these bases were 37.36%,16.48%,40.66% and 5.50%,respectively.The frequency of adenine bases was significantly higher than guanine and cytosine (P =0.00,P =0.00).The frequency of guanine bases was significantly higher than thymine and cytosine (P =0.00,P =0.00).The frequency of thymine bases was significantly high-er than cytosine (P =0.02 ).The frequency of deliton,transiton and transvertion were 21.98%, 35.16% and 42.86%,respectively.The frequency of deliton was significantly lower than transition and transvertion (P =0.05,P =0.05),The ratio of transition to transversion was 0.82.Conclusion:To our knowledge,this is the first study to report the characteristics of the mutation /SNP type in CD3ζ3′-UTR in Chinese healthy individuals.High frequency transitions of T >C influence the ratio of transition to transversion in Chinese healthy individuals.