TLR4基因多态性在中国人群中的初步研究  

Study on single nucleotide polymorphism of TLR4 in Chinese population

作　　者：冯凯[1] 周钢桥[2] 翟芸[2] 朱佩芳[1] 王正国[1] 贺福初[2] 蒋建新[1] 

机构地区：[1]第三军医大学大坪医院野战外科研究所,重庆400042 [2]中国军事医学科学院放射医学研究所基因组学和蛋白质组学研究室,国家人类基因组北方研究中心

出　　处：《中华医学遗传学杂志》2005年第1期99-101,共3页Chinese Journal of Medical Genetics

基　　金：国家重点基础研究发展规划项目(973)(G1999054200);国家高技术"863"计划资助项目(2001AA224011);国家杰出青年科学基金项目(30325040);第三军医大学创伤烧伤复合伤国家重点实验室开放基金课题~~

摘　　要：目的检测中国人Toll样受体4(Toll-likereceptor4,TLR4)基因调控区和编码区的单核苷酸多态性(singlenucleotidepolymorphisms,SNPs),寻找TLR4基因的遗传标记。方法采用直接测序的方法检测基因的5′区、编码区、部分内含子区和3′区,以确定中国人群中TLR4基因SNP的位置和类型,并用聚合酶链反应-限制性片段长度多态性对重庆汉族样本进行了抽样调查。结果在4.98kb的测序范围内,发现5个新的SNP,3个位于5′区,2个位于3′非翻译区。在重庆地区汉族样本中,两个高频分布SNP的等位基因频率分别是0.266和0.404。结论在TLR4基因新发现的两个高频多态性位点在我国人群中比较常见,可以作为关联分析的遗传标记。Objective To identify the single nucleotide polymorphisms(SNPs) in the regulatory and coding regions of human Toll-like receptor 4 ( TLR4) gene and to search for its new genetic makers. Methods The 5′ flank region,exons, parts of the introns, as well as 3′ flank region of TLR4 gene were sequenced to identify and characterize the SNPs in Chinese population. SNP genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism for 2 highly distributed SNPs. Results Five novel SNPs were identified through a 4.98 kb sequencing of TLR4 gene. Among them, three were in 5′ flank region, two in 3′UTR. In the sample of Han population from Chongqing, the minor allele frequencies of two highly distributed SNPs were 0.266 and 0.404 respectively. Conclusion Sampling analysis in Han population of Chongqing showed that the two highly distributed SNPs of TLR4 were common in Chinese population and could be used for genetic marker of TLR4 gene.

关 键 词：TLR4基因 中国人群 SNP 编码区 多态性 汉族 常见 内含子 3′非翻译区 遗传标记 

分 类 号：Q987[生物学—遗传学]