中国汉族人孕烷X受体基因NR1I2的单核苷酸多态性

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。

Single nucleotide polymorphisms of pregnane X receptor gene NR1I2 in Chinese healthy Han

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 and 5 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. CONCLUSION 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.