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

Study on E-selectin gene polymorphism in Uyghur and Han nationalities in Urumchi

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(χ~2=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。

AIM To explore the gene polymorphisms distribution of E - selectin gene SNP rs5361 in Uy-ghur and Han nationalities in Urumqi, Xinjiang. METHODS： 185 oral epithelial cell samples were collected from Uy- ghur（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 frequen-cy 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 （χ2 = 7.475/7.037, P = 0. 024/0. 008）. CONCLUSION ： The gene polymorphism distribution of SNP rs5361 in Uy-ghur nationalitiy in Urumchi is different from that in Han nationality.