E-选择素基因多态性在乌鲁木齐地区维、汉民族间的分布调查

摘要

AIM:To explore the gene polymorphisms distribution of E-selectin gene SNP rs5361 in Uyghur and Han nationalities in Urumqi, Xinjiang.METHODS:185 oral epithelial cell samples were collected from Uyghur(n=98) and Han subjects(n=87), gene sequencing was performed after whole-genome DNA extraction, the distribution of gene polymorphisms was compared between the 2 nationalities.RESULTS:For the Uyghur nationality in Urumchi, the frequencies of rs5361AA, AC and CC gene types were 77.6%,21.4% and 1.0%, the allele frequency of A/C were A=84.9% and C=15.1%;for the Han nationality the frequencies of rs5361AA, AC and CC gene types were 92.0%, 8.0% and 0.0%, the allele frequency of A/C was A=96.0% and C=4.0%, respectively(x2=7.475/7.037, P=0.024/0.008).CONCLUSION:The gene polymorphism distribution of SNP rs5361 in Uyghur nationalitiy in Urumchi is different from that in Han nationality.%目的:研究新疆乌鲁木齐地区维吾尔族及汉族人群中E-选择素基因rs5361多态性位点的分布特征.方法:采用横断面研究方法,选择乌鲁木齐地区的维吾尔族(n=98)及汉族(n=87)样本共185例,采用棉拭子法取其颊黏膜脱落上皮细胞后,再提取基因组DNA并进行基因测序;然后统计分析以上受试人群中E-选择素基因rs5361位点的基因型频率和等位基因频率. 结果:在乌鲁木齐地区的维吾尔族人群中,E-选择素基因rs5361位点的AA、AC和CC的基因型频率分布分别为77.6%、21.4%和1.0%, A/C等位基因频率分布为A=84.9%,C=15.1%;汉族人群中AA、AC和CC的基因型频率分布分别为92.0%、8.0%和0,A/C等位基因频率分布为A=96.0%,C=4.0%;两民族间的基因型分布及基因型频率相比,均具有统计学差异(x2=7.475/7.037, P=0.024/0.008).结论:新疆乌鲁木齐地区维吾尔族、汉族两人群间的E-选择素基因rs5361位点的基因多态性分布特征具有显著性差异.