T细胞CD3ζ3'-UTR区域突变类型的特点

The characteristics of the mutation type in CD3ζ 3'-UTR region in T cell

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 CD3ζ 3’-UTR to deeply understand the characteristics of mutation/SNP in CD3ζ 3’-UTR region among Chinese healthy individuals. Methods： RT-PCR,T vector 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 mutation/SNP were detected in CD3ζ 3’-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 higher 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 CD3ζ 3’-UTR in Chinese healthy individuals. High frequency transitions of T 〉C influence the ratio of transition to transversion in Chinese healthy individuals.