作　　者： ; ; ; ; ;

机构地区： 中山大学药学院临床药理研究所

出　　处： 《中国药理学与毒理学杂志》 2006年第6期479-483,共5页

摘　　要： 目的了解中国健康汉族人孕烷X受体基因NR1I2的单核苷酸多态性分布以明确种族差异。方法用PCR扩增后直接测序的方法,检测NR1I2基因2和4外显子及1,2,4和5内含子的单核苷酸突变。结果中国健康汉族人NR1I2基因2和4外显子均未发现已报道的单核苷酸突变,外显子1和内含子1,2,4和5检测到单核苷酸突变9种,分别为-24446C>A,-24381A>C,-24113G>A,252A>G,275A>G,4760G>A,7635G>A,7637C>T和7675C>T,等位基因频率分别为2.4%,20.8%,20.8%,33.3%,31.0%,68.5%,31.7%,1.6%和10.6%,其中7637C>T未见在任何文献和单核苷酸多态性数据库中报道,为新发现突变。结论中国健康汉族人NR1I2内含子1,2,4和5位置检测到9种单核苷酸突变,且突变频率较高,与白人和美国黑人比较,单核苷酸突变的发生位点和发生频率存在显著性差异。 AIM To explore species difference in single nucleotide polymorphisms （ SNP ） of pregnane X receptor gene NR1I2. METHODS The polymorphisms of NR1I2 were analyzed by the polymerase chain reaction （PCR）-direct sequencing. RESULTS The reported SNP in exons 2 and 4 were not detected in Chinese healthy Han. Nine SNP in exon 1 and introns 1, 2, 4 and5 were detected： -24446C 〉A, -24381A〉C, - 24113G 〉 A, 252A 〉 G, 275A 〉 G, 4760G 〉 A, 7635G 〉 A, 7637C 〉T and 7675C 〉 T, with the frequency of 2.4%, 20.8%, 20.8%, 33.3%, 31.0%, 68.5%, 31. 7%, 1. 6% and 10. 6%, respectively.7637C 〉 T was the novel SNP. CONCLU- SION Nine SNP with high allele frequency in introns 1, 2, 4 and 5 are detected in Chinese healthy Han and there are significant differences in the SNP mutation locus and frequencies between Chinese Han and Caucasians and African Americans.

关 键 词： 受体 孕烷 多态性 单核苷酸 种族 汉族人

领　　域： [生物学]