TLR4基因内含子区rs12377632T／C位点多态性研究

目的：通过对TLR4（tolllikereceptor4）基因内含子区单核苷酸多态性（singlenucleotidepolymorphism，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rsl2377632T／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rsl2377632T／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rsl2377632T／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。

GENETIC POLYMORPHISM OF TLR4 AT THE INTRONIC REGION

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.