为了探讨浙江汉族人群13种细胞因子基因多态性的分布情况, 采用PCR-SSP对100名汉族人群的IL-1α(T/C-889)、IL-1β(C/T-511, T/C+3962)、IL-1R(C/T Pst-I 1970)、IL-1RA(T/C Mspa1-I 1100)、IL-2 (T/G -330, G/T +166)、IL-4 (T/G -1098, T/C -590, T/C -33)、IL-4Rα(G/A +1902)、IL-6 (G/C-174, G/A nt565)、IL-10 (G/A -1082, C/T -819, C/A-592)、IL-12(C/A -1188)、gIFN (A/T UTR 5644)、TGFβ(C/T codon 10, G/C codon 25)、TNFα(G/A -308, G/A -238)等细胞因子基因多态性进行分型。结果显示, (1)在检测的13种细胞因子中, TGF(G codon 25)等位基因频率为1.00, 未检测到TGF(C codon 25)等位基因; (2)细胞因子等位基因频率大于0.95的有IL-1α(C-889)、IL-1β(C +3962)、IL-4 (T –1098)、IL-6 (G-174)、IL-6(G nt565)、IL-10(A –1082)和TNFa (G -238); 频率低于0.05的有IL-1α(T -889)、IL-1β(T +3962)、IL-4(G –1098)、IL-6 (A-174)、IL-6 (A nt565)、IL-10 (G –1082) 和TNFa (A -238); (3) IL-10高表达单倍型GCC频率为0.05, 低表达单倍型ATA频率为0.735; TGF β高表达单倍型TG频率为0.49, 低表达单倍型CC频率为0; TNF a高表达单倍型AG和AA频率为0.055, 低表达单倍型GG和GA频率为0.945。结果表明, 浙江汉族人群细胞因子基因多态性较为丰富, 具有地区性遗传特征。

In order to investigate the genetic polymorphism of 13 cytokines genes in Han individuals from Zhejiang. The polymerase chain reaction-sequence specific primers (PCR-SSP) method was used to determine genetic polymorphisms in 100 unrelated healthy Han individuals from Zhejiang province. We found that: (1)The frequency of the TGFb (G codon 25) allele is 1.00 and no TGFb (C codon 25) allele is found. (2) The frequencies of IL-1a (C-889), IL-1b(C +3962), IL-4 (T-1098), IL-6 (G-174), IL-6 (G nt565), IL-10 (A-1082) and TNFa (G-238) alleles are more than 0.95; while the frequen-cies of IL-1a (T-889), IL-1a (T +3962), IL-4 (G-1098), IL-6 (A-174), IL-6 (A nt565), IL-10 (G-1082), TNFa (A-238) al-leles are less than 0.05. (3) The haplotype frequency of the high-producer-type GCC in IL-10 gene is 0.05, while the low-producer-type ATA is 0.735. The haplotype frequency of the high-producer-type TG in the TGFb gene is 0.49, while the low-producer-type CC is 0. The hap lotype frequency of the high-producer-types AG and AA in the TNFa gene is 0.055, while of the low-producer-types GG and GA is 0.945. The results showed that the genetic polymorphism of cytokine genes in Han individuals from Zhejiang Province is distinctive.