Salimova A Z, Kutuev I A, Khusainova R I, Akhmetova V L, Sviatova G S, Berezina G M, Khusnutdinova E K
Genetika. 2005 Jul;41(7):973-80.
Eight nuclear DNA loci, including six Alu insertions (ACE, APOA1, PV92, TPA25, Ya5NBC27, and Ya5NBC148), 32-bp deletion in the CCR5 gene, and VNTR locus at the eNOS gene, were examined in three ethnogeographic groups of Kazakhs (342 individuals). The individuals examined lived in southeastern, central, and southwestern regions of Kazakhstan, and according to their tribal attribution, belonged to the Senior, Middle, and Junior Zhuzes. The Alu insertions appeared to be polymorphic in all populations examined: the insertion frequency varied from 0.264 in the populations of the Senior and Middle Zhuzes at the Ya5NBC27 and Ya5NBC148 loci, to 0.827 in Kazakhs of the Middle Zhuz at the APOA1 locus. In Kazakh groups examined only two alleles of the eNOS VNTR locus were detected with the number of repeats constituting four (A) and five (B) copies. The highest frequency of A allele was found in Kazakhs from the Junior Zhuz (0.113), while the highest frequency of B allele was detected in population of the Senior Zhuz (0.893). The frequency of the 32-bp deletion in the chemokine receptor CCR5 gene varied from 0.027 in the Junior Zhuz to 0.045 in the Senior Zhuz. Kazakhs showed high genetic diversity (Hex = 0.376). In general, in three ethnogeographic groups of Kazakhs, the coefficient of gene differentiation (G(ST)) over eight diallelic markers of nuclear genome constituted 1.1%. The differences in the Alu insertions made the highest contribution to the among-population diversity (G(ST) = 1.2%).
在三个哈萨克族的民族地理群体（342人）中检测了8个核DNA位点，包括6个Alu插入序列（ACE、APOA1、PV92、TPA25、Ya5NBC27和Ya5NBC148）、趋化因子受体CCR5基因中的32bp缺失以及内皮型一氧化氮合酶（eNOS）基因的可变数目串联重复序列（VNTR）位点。接受检测的个体生活在哈萨克斯坦的东南部、中部和西南部地区，根据他们的部落归属，分别属于大玉兹、中玉兹和小玉兹。Alu插入序列在所有检测群体中均表现出多态性：插入频率在大玉兹和中玉兹群体的Ya5NBC27和Ya5NBC148位点为0.264，在中玉兹哈萨克族的APOA1位点为0.827。在检测的哈萨克族群体中，仅检测到eNOS VNTR位点的两个等位基因，重复次数分别为4次（A）和5次（B）。小玉兹哈萨克族中A等位基因的频率最高（0.113），而大玉兹群体中B等位基因的频率最高（0.893）。趋化因子受体CCR5基因中32bp缺失的频率在小玉兹为0.027，在大玉兹为0.045。哈萨克族表现出较高的遗传多样性（Hex = 0.376）。总体而言，在哈萨克族的三个民族地理群体中，核基因组的8个双等位基因标记的基因分化系数（G(ST)）为1.1%。Alu插入序列的差异对群体间多样性的贡献最大（G(ST) = 1.2%）。
