本文選題：ENPP基因 + 單核苷酸多態(tài)性　； 參考：《口腔醫(yī)學(xué)研究》2017年06期

【摘要】：目的:研究新疆喀什地區(qū)維吾爾族人群中焦磷酸合成酶1(ENPP1)基因rs6925433多態(tài)性位點(diǎn)的分布特征。方法:采用橫斷面研究方法,以喀什地區(qū)疏附縣213例維吾爾族個(gè)體為對(duì)象,采用棉拭子法取雙側(cè)頰黏膜脫落上皮細(xì)胞,提取基因組DNA,利用PCR和雙脫氧末端終止法基因測(cè)序,結(jié)合DNAstar和Chromas 2等軟件進(jìn)行基因分型,統(tǒng)計(jì)分析受試人群基因型頻率和等位基因頻率,并與已報(bào)道的其他地區(qū)民族基因數(shù)據(jù)進(jìn)行比較分析。結(jié)果:喀什地區(qū)維吾爾族人群中ENPP1基因rs6925433位點(diǎn)GG,AG和AA的基因型頻率分布分別為28.17%,50.23%和21.60%,A/G等位基因頻率分布A=46.71%,G=53.29%;與北京漢族人群相比,維吾爾族人群rs6925433位點(diǎn)GG型分布高,AA型分布低(P=0.046);與歐洲人群相比,維吾爾族人群該SNP位點(diǎn)GG型分布低,AA型分布高(P=0.010),差異均具有統(tǒng)計(jì)學(xué)意義;在上述3個(gè)人群中,A/G等位基因頻率分布未見明顯差別。結(jié)論:新疆喀什地區(qū)維吾爾族人群與其他民族人群rs6925433位點(diǎn)基因多態(tài)性分布特征明顯不同。
[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.
【作者單位】： 新疆醫(yī)科大學(xué)第一附屬醫(yī)院口腔修復(fù)科;
【基金】：新疆維吾爾自治區(qū)科技廳科技支疆項(xiàng)目(編號(hào)201591191)
【分類號(hào)】：R782
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本文編號(hào)：1941574