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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.
OBJECTIVE: To analyze the characteristics of mutations / SNPs in CD3ζ3’-UTR region and to understand the characteristics of mutations / SNPs in CD3ζ3’-UTR of healthy Han people in China.Methods: RT-PCR, T-vector cloning and nucleotide sequencing 20 cases of healthy human peripheral blood mononuclear cells in CD3ζ3’-UTR mutation / SNP mutation types and so on.Results: 20 kinds of healthy human peripheral blood mononuclear cells in CD3ζ3’-UTR region were detected 21 kinds of mutations / SNP.CD3ζ3 ’ The frequencies of adenine, thymine, guanine and cytosine in the -UTR region were 37.36%, 16.48%, 40.66% and 5.50%, respectively.The frequency of adenine mutation was significantly higher than that of thymine and cytosine P = 0.00). The mutation frequency of guanine was significantly higher than that of thymine and cytosine (P = 0.00). The mutation frequency of thymine was significantly higher than that of cytosine (P = 0.02) The frequency of deletion mutation was significantly lower than that of the conversion and substitution mutation (P = 0.05, P = 0.02), and the conversion / transversion ratio was 0.82.Conclusion: The frequency of the first and the second mutation was 21.98%, 35.16% and 42.86% Report of Chinese healthy human peripheral blood mononuclear cells CD3ζ3’-UTR region mutation type characteristics, T> C turn Affect the conversion / transversion mutation occurs in high frequency than healthy Chinese Han people CD3ζ3’-UTR region.