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TLR4基因内含子区rs12377632T/C位点多态性研究 被引量:3

GENETIC POLYMORPHISM OF TLR4 AT THE INTRONIC REGION
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摘要 目的:通过对TLR4(toll-like receptor 4)基因内含子区单核苷酸多态性(single nucleotide polymorphism,SNP)基因型和等位基因的研究,旨在了解其在中国广西地区人群的频率分布及其在不同地区、种族之间分布是否存在差异。方法:使用单碱基延伸PCR技术和DNA测序方法来检测中国广西地区人群TLR4基因内含子区rs12377632T/C多态性,并比较中国广西地区人群与人类基因组计划研究的4个人群(欧洲、中国北京、日本、非洲)的SNP分型数据,以分析TLR4基因内含子区rs12377632T/C位点基因型和等位基因在不同地区、人群之间的差异。结果:中国广西地区人群的TLR4基因内含子区rs12377632T/C位点SNP分型数据在男性、女性之间分布差异无统计学意义(P>0.05)。其SNP分型数据与日本、中国北京地区人群相比较,分布差异无统计学意义(P>0.05);而与欧洲、非洲地区人群比较,分布差异有统计学意义(P<0.001)。结论:TLR4基因内含子区rs12377632T/C位点SNP,在不同地区、种族人群之间存在明显差异。 Objective:To investigate the genotypic and allelic distribution frequencies of toll like receptor 4 (TLR4) gene at the intronic region in Guangxi population, and to analyze genotype and allele of diversity of TLR4 gene among different regions and different races. Methods: Polymerase chain reaction single base ex tension (PCR-SBE) and DNA sequencing were used to analyze the rs12377632T/C polymorphism at the TLR4 gene intronic region in Guangxi population, and to compared the diversity of genotype and allele of TLR4 with other population (Hapmap-CEU, Hapmap-HCB, Hapmap-JPT, and Hapmap-YRI) from the Human Genome Project group (Hapmap) data. Results: The diversity of rs12377632T/C polymorphism at the TLR4 intronic region had no statistically significant difference between female and male groups ( P〈 0.05). No significant difference ( P 〉0.05) of the diversity of genotype and allele of TLR4 was observed among Guangxi population, Hapmap-HCB and Hapmap-JPT. There was statistically significant difference ( P〈0. 001) of the diversity of genotype and allele when compared to Hapmap-CEU and Hapmap YRI. Conclusion: The distribution frequencies of polymorphism at the TLR4 intronic region were statistically significant difference among different ethnic groups and races.
出处 《广西医科大学学报》 CAS 2013年第6期887-889,共3页 Journal of Guangxi Medical University
基金 广西自然科学基金重点项目(No.2011GXNSFD018039) 广西科技攻关项目(No.桂科攻No.1140003B-93) 广西教育厅科研资助项目(No.201012MS176) 广西医疗卫生重点科研项目(No.重2010058)
关键词 TLRS TLR4 单核苷酸多态性 TLRs TLR4 single nucleotide polymorphism
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