Kochetova O V, Korytina G F, Akhmadishina L Z, Viktorova T V
Genetika. 2013 Aug;49(8):1000-7. doi: 10.7868/s0016675813080055.
Genotype and allele-frequency distributions of the excision and homologous recombination of DNA repair genes XRCC1 (rs25487 and rs25489), XRCC3 (rs861539), XPC (rs2228001), XPD (rs13181), XPA (rs1800975) were examined in three ethnic groups from the Republic of Bashkortostan (Russia), Russians, Tatars, and Bashkirs. The data obtained were compared to those for other ethnic groups from Russia and worldwide. Statistically significant differences in the allele-frequency distribution of the XPA gene polymorphic locus rs1800975 (p = 0.03) between the samples of Russians and Tatars were demonstrated. Russians and Bashkirs differed in the allele-frequency distribution of the rs861539 polymorphic locus of the XRCC3 gene (p < < 0.0001), and Tatars and Bashkirs, at the rs861539 locus of the XRCC3 gene (p < 0.0001). In Russians and Tatars from the Republic of Bashkortostan, allele frequencies at the DNA repair gene polymorphic loci examined were consistent with those in the population of Northern and Western Europe, while polymorphic allele-frequency distributions in Bashkirs was similar to that observed in the ethnic group of Gujarati Indians.
在来自俄罗斯巴什科尔托斯坦共和国的三个民族,即俄罗斯人、鞑靼人和巴什基尔人中,检测了DNA修复基因XRCC1(rs25487和rs25489)、XRCC3(rs861539)、XPC(rs2228001)、XPD(rs13181)、XPA(rs1800975)的基因型和等位基因频率分布。将获得的数据与来自俄罗斯和全球其他民族的数据进行了比较。结果表明,俄罗斯人和鞑靼人的样本之间,XPA基因多态性位点rs1800975的等位基因频率分布存在统计学显著差异(p = 0.03)。俄罗斯人和巴什基尔人在XRCC3基因的rs861539多态性位点的等位基因频率分布上存在差异(p << 0.0001),鞑靼人和巴什基尔人在XRCC3基因的rs861539位点也存在差异(p < 0.0001)。在巴什科尔托斯坦共和国的俄罗斯人和鞑靼人中,所检测的DNA修复基因多态性位点的等位基因频率与北欧和西欧人群一致,而巴什基尔人的多态性等位基因频率分布与古吉拉特印度人族群中观察到的情况相似。