ENPP1基因rs6925433位点基因多态性在喀什地区维吾尔族人群中的分布调查

发布时间：2018-05-27 10:07

  本文选题：ENPP基因 + 单核苷酸多态性　； 参考：《口腔医学研究》2017年06期

【摘要】：目的:研究新疆喀什地区维吾尔族人群中焦磷酸合成酶1(ENPP1)基因rs6925433多态性位点的分布特征。方法:采用横断面研究方法,以喀什地区疏附县213例维吾尔族个体为对象,采用棉拭子法取双侧颊黏膜脱落上皮细胞,提取基因组DNA,利用PCR和双脱氧末端终止法基因测序,结合DNAstar和Chromas 2等软件进行基因分型,统计分析受试人群基因型频率和等位基因频率,并与已报道的其他地区民族基因数据进行比较分析。结果:喀什地区维吾尔族人群中ENPP1基因rs6925433位点GG,AG和AA的基因型频率分布分别为28.17%,50.23%和21.60%,A/G等位基因频率分布A=46.71%,G=53.29%;与北京汉族人群相比,维吾尔族人群rs6925433位点GG型分布高,AA型分布低(P=0.046);与欧洲人群相比,维吾尔族人群该SNP位点GG型分布低,AA型分布高(P=0.010),差异均具有统计学意义;在上述3个人群中,A/G等位基因频率分布未见明显差别。结论:新疆喀什地区维吾尔族人群与其他民族人群rs6925433位点基因多态性分布特征明显不同。
[Abstract]:Objective: to study the distribution of rs6925433 polymorphism of pyrophosphate synthase 1 ENPP1 gene in Uygur population in Kashi region of Xinjiang. Methods: a cross-sectional study was carried out on 213 Uygur individuals in Shufu County, Kashi area. The exfoliated epithelial cells of both buccal mucosa were extracted by cotton swab method. The genomic DNA was extracted and sequenced by PCR and dideoxy terminal termination method. The genotype frequency and allelic frequency of the subjects were statistically analyzed by using DNAstar and Chromas 2 software, and compared with the reported ethnic gene data from other regions. Results: the genotypes of GGG AG and AA in the rs6925433 locus of ENPP1 gene were 28.170.23% and 21.60% in Uygur population in Kashi area, respectively. The GG distribution of rs6925433 locus in Uygur population was higher than that in Europe, and the distribution of GG locus in Uygur population was lower than that in Europe, and the distribution of GG locus in Uygur population was higher than that in Uygur population, and the difference was statistically significant. There was no significant difference in the frequency distribution of the A / R G allele among the above three populations. Conclusion: the distribution of rs6925433 locus polymorphism in Uygur population and other ethnic groups in Kashi area of Xinjiang is obviously different.
【作者单位】： 新疆医科大学第一附属医院口腔修复科;
【基金】：新疆维吾尔自治区科技厅科技支疆项目(编号201591191)
【分类号】：R782
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本文编号：1941574