兰州市汉族人群促炎症细胞因子及其受体基因多态性的群体遗传学研究  

Genetic research on gene polymorphisms of pro-inflammatory cytokines and their receptors in Han Chinese of Lanzhou City

作　　者：阎立新[1] 李菲菲[2] 郭心灵[2] 尤崇革[2] 

机构地区：[1]兰州大学第二医院心理卫生科,甘肃兰州730030 [2]兰州大学第二医院检验与实验临床医学中心,甘肃兰州730030

出　　处：《兰州大学学报（医学版）》2013年第4期29-33,共5页Journal of Lanzhou University（Medical Sciences）

基　　金：甘肃省技术研究与开发专项计划项目(1105TCYA002);兰州大学第二医院院内基金(YJ2010-6)

摘　　要：目的探讨兰州市汉族人群(HCL)促炎症细胞因子及其受体的基因多态性。方法采用聚合酶链式反应-高分辨熔解曲线分析法(PCR-HRM)检测1 000例HCL人群IL1B-511、-31、+3954,IL1RN,IL6-597、-572、-174,IL6R-183,IL6R-exon1,1L6R-exon2,TNFA-238、-308、-857、-863,TNFR1383和TNFR2T676G位点的基因多态性,并进行群体遗传学分析。结果在HCL人群中IL6-174、IL6-597、TNFA-238、TNFA-308、IL1B+3954、TNFA-863、IL6R-exon2以及TNFR1-383位点的次要等位基因频率(MAF)较低(0.03~0.09);IL1RN和TNFRT676G位点的MAF为0.13和0.17;TNFA-857、IL6-572、IL6R-exon1、IL6R-183、IL1B-511和IL1B-31位点的MAF较高(0.28~0.47)。HCL人群细胞因子基因多态性的分布与中国北京汉族人相似,和日本人接近,显著区别于欧洲人群和非洲人群。结论 PCR-HRM技术是一种适合于大样本基因分型的高效、价廉常规化检测方法,本研究获得IL1B-511、IL1B-31、IL1B+3954、IL6-572、IL1B-174、TNFA-238、-308、-857和TNFR、T676G位点的基因频率,可作为公共数据用于疾病关联基因的筛选。Objective To analyze the gene polymorphisms of pro-inflammatory cytokines and their receptors in Han Chinese of Lanzhou City(HCL).Methods Polymerase chain reaction-high resolution melting technology was applied to genotype 16 single nucleotide polymorphisms(SNPs)of IL1B-511,-31,+3954,IL1RN,IL6-597,-572,-174,IL6R-183,IL6R-cxonl,IL6R-exon2,TNFA-238,-308,-857,-863,TNFR1-383 and TNFRT676G for 1000 HCL.The results were treated by population genetic analysis.Results The SNPs of IL6-174,IL6-597,TNFA-238,TNFA-308,IL1B+3954,TNFA-863,IL6R-exon2 and TNFR1-383 were lower minor allele frequencies ranging from 0.03 to 0.09;the SNPs of ILIRN and TNFR T676G were 0.13 and0.17,those of TNFA-857,IL6-572,IL6R-exon1,IL6R-183,IL1B-511 and IL1B-31 were higher minor allele frequencies ranging from 0.28 to 0.47.These SNP distributions in HCL had similarity with Han Chinese in Beijing city and Japanese,but significantly different from European and African.Conclusion Polymerase chain reaction-high resolution melting is an efficient and inexpensive routine SNP detection technology suitable for large sample genotyping.The SNP data of IL1B-511,IL1B-31,IL1B+3954,IL6-572,IL1B-174,TNFA-238,-308,-857 and TNFRT676G may been taken as public control applied to screening disease-associated genes.

关 键 词：促炎症细胞因子 基因多态性 群体遗传 

分 类 号：R394.5[医药卫生—医学遗传学]