中国成都汉族与泰国人群NFKB1基因遗传多态性研究

Genetic Polymorphism of NFKB1 Gene in Chinese Han of Chengdu and Thai Populations

目的研究NFKB1基因单核苷酸多态性(rs3774963C>G和rs11722146A>G)在中国成都汉族与泰国曼谷地区正常人群中的分布,同时比较不同种族间NFKB1基因型及等位基因频率分布的差异。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测118名中国成都汉族人和101名泰国人NFKB1基因多态性,比较两组人群2个位点的基因型和等位基因的分布频率,并与国际人类基因组单倍型图计划中的不同种族研究结果进行比较。结果在中国成都汉族与泰国人群中,NFKB1基因rs3774963C>G位点CC、CG、GG基因型频率分别为15.3%、43.2%、41.5%和25.7%、47.5%、26.7%,C、G等位基因频率分别为36.9%、63.1%和49.5%、50.5%,基因型和等位基因频率在两组人群中分布差异具有统计学意义(P<0.05);rs11722146A>G位点AA、AG、GG基因型频率分别为22.9%、50.0%、27.1%和18.8%、53.5%、27.7%;A、G等位基因频率分别为47.9%、52.1%和54.5%、45.5%,基因型和等位基因频率在两个人群中的分布差异无统计学意义(P>0.05)。与国际人类基因组单倍型图计划中的不同种族相比,rs11722146A>G位点基因型和等位基因频率在中国成都汉族与欧洲和非洲人群的差异具有统计学意义(P<0.05);而rs3774963C>G位点在各人群中的分布差异无统计学意义。结论NFKB1基因单核苷酸多态性(rs3774963C>G和rs11722146A>G)在不同种族间的分布存在明显差异。

Objective To investigate the single nucleotide polymorphisms （rs3774963 C〉G and rs11722146 A〉G） of NFKB1 gene between the Chinese Han of Chengdu and Thai populations, and simultaneously to compare distributions of genotype and allelic frequencies of NFKB1 among different ethnic groups from the International Haplotype Map Project. Methods The genotypes and allele frequencies of NFKB1 gene rs3774963 C〉G and rs11722146 A〉G were analyzed in 118 healthy Chinese Han of Chengdu and 101 Thai individuals using polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） strategy and DNA sequencing. Results The frequencies of the CC, CG, and GG genotypes of rs3774963 C〉G were 15.3%, 43.2%, and 41.5% in Chinese Han of Chengdu, and 25.7%, 47.5%, and 26.7% in Thai population, respectively. The frequencies of the C and G alleles were 36. 9% and 63. 1% in Chinese Han of Chengdu, and 49. 5% and 50. 5% in Thai population, respectively. There were significant differences in the genotypes and allele frequencies between the two groups. The frequencies of the AA, AG, and GG genotypes of rs11722146 A〉G were 22.9%, 50.0%, and 27.1% in Chinese Han of Chengdu, and 18.8%, 53.5%, and 27.7% in Thai population, respectively. The frequencies of the A and G alleles were 47.9 %, 52.1% in Chinese Han of Chengdu, and 54.5 %, 45.5 % in Thai population, respectively. However, no statistically significant difference was observed between the two populations. Interestingly, when compared with the data from the International Haplotype Map Project, the genotypes and allele frequencies of NFKB1 gene rs11722146 A〉G but not rs3774963 C〉G in the Chinese Han of Chengdu were significantly different from those among European and Sub-Saharan African populations. Conclusion NFKB1 gene polymorphism in diverse populations is significantly different.