CAJ | 학술논문

目的:人类Toll样受体4(TLR4)是先天免疫系统中一个重要的病原微生物识别受体.本研究将建立中国汉族正常人群TLR4基因座位的单核苷酸多态性图谱.方法:收集191例健康、无亲缘关系的中国广东汉族人外周血液,通过对TLR4基因的启动子区、3个外显子区以及它们周围的内含子区进行PCR扩增和测序,得到汉族正常人群TLR4基因座位单核苷酸多态性图谱及其频率分布特点.结果:共发现8个单核苷酸多态性位点,其中5个是首次发现的新位点.分布频率最高(0.283)的单核苷酸多态性位点是-1607 C/T.常见于高加索人中的2个非同义突变Asp299Gly和Thr399Ile在汉族人中没有被发现.中性检验显示汉族人群TLR4基因符合中性进化模型.结论:本研究建立了汉族正常人群TLR4基因座位的单核苷酸多态性图谱,发现了一些种族特异性的单核苷酸多态性位点,这些工作将为今后开展汉族人基因多态性与疾病相关性研究以及人群进化研究提供一定的帮助.
목적:인류Toll양수체4(TLR4)시선천면역계통중일개중요적병원미생물식별수체.본연구장건립중국한족정상인군TLR4기인좌위적단핵감산다태성도보.방법:수집191례건강、무친연관계적중국엄동한족인외주혈액,통과대TLR4기인적계동자구、3개외현자구이급타문주위적내함자구진행PCR확증화측서,득도한족정상인군TLR4기인좌위단핵감산다태성도보급기빈솔분포특점.결과:공발현8개단핵감산다태성위점,기중5개시수차발현적신위점.분포빈솔최고(0.283)적단핵감산다태성위점시-1607 C/T.상견우고가색인중적2개비동의돌변Asp299Gly화Thr399Ile재한족인중몰유피발현.중성검험현시한족인군TLR4기인부합중성진화모형.결론:본연구건립료한족정상인군TLR4기인좌위적단핵감산다태성도보,발현료일사충족특이성적단핵감산다태성위점,저사공작장위금후개전한족인기인다태성여질병상관성연구이급인군진화연구제공일정적방조.
AIM: Toll-like receptor 4 (TLR4) was an important pathogen recognition receptor in the innate immune system. The aim of this study was to investigate the distribution of TLR4 polymorphisms in the general population of China. METHODS: Peripheral blood samples were collected from 191 unrelated healthy Chinese Cantonese individuals. The functional regions of TLR4 locus,including promoter region and all three exons with their surrounding intronic regions were amplified using polymerase chain reaction. After purified,the amplified products were directly sequenced on both strands. RESULTS: A total of eight single nucleotides polymorphisms (SNPs) were detected,five of which were novel. The most common SNP were -1607 C/T with the minor allele frequency of 0.283. Two nonsynonymous substitutions Asp299Gly and Thr399Ile,which were common in Caucasus,were not detected in Cantonese. Neutrality test revealed that TLR4 in Chinese Cantonese was not significantly deviated from the neutral model. CONCLUSION: This is the new finding on the distribution of TLR4 SNPs in the general population of China. It provides several ethnic specific SNPs for further disease association studies of TLR4 polymorphisms in Chinese populations.