Gao Lin-bo, Xue Hui, Pan Xin-min, Liang Wei-bo, Zhou Bin, Lü Mei-li, Fang Wen-liang, Bai Peng, Zhang Lin
Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, China.
Sichuan Da Xue Xue Bao Yi Xue Ban. 2009 May;40(3):445-8.
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.
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.
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 Hen 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.
NFKB1 gene polymorphism in diverse populations is significantly different.
研究成都汉族人群与泰国人群中NFKB1基因的单核苷酸多态性（rs3774963 C>G和rs11722146 A>G），并同时比较国际单倍型图谱计划中不同种族群体间NFKB1基因的基因型和等位基因频率分布。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术和DNA测序法，对118名成都健康汉族人和101名泰国人进行NFKB1基因rs3774963 C>G和rs11722146 A>G的基因型及等位基因频率分析。
rs3774963 C>G的CC、CG和GG基因型频率在成都汉族人群中分别为15.3%、43.2%和41.5%，在泰国人群中分别为25.7%、47.5%和26.7%。C和G等位基因频率在成都汉族人群中分别为36.9%和63.1%，在泰国人群中分别为49.5%和50.5%。两组间基因型和等位基因频率存在显著差异。rs11722146 A>G的AA、AG和GG基因型频率在成都汉族人群中分别为22.9%、50.0%和27.1%，在泰国人群中分别为18.8%、53.5%和27.7%。A和G等位基因频率在成都汉族人群中分别为47.9%、52.1%，在泰国人群中分别为54.5%、45.5%。然而，两组人群间未观察到统计学上的显著差异。有趣的是，与国际单倍型图谱计划的数据相比，成都汉族人群中NFKB1基因rs11722146 A>G而非rs3774963 C>G的基因型和等位基因频率与欧洲和撒哈拉以南非洲人群存在显著差异。
不同人群中NFKB1基因多态性存在显著差异。
