Kutuev I A, Fatkhlislamova R I, Khidiiatova I M, Khusnutdinova E K
Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, 450054 Russia.
Mol Biol (Mosk). 2003 Nov-Dec;37(6):961-70.
Eleven populations of the Volga-Ural region were analyzed with respect to three intragenic polymorphisms of the Huntington disease gene (IT15), including highly polymorphic (CAG)n and moderately polymorphic (CCG)n of exon 1 and neutral del2642 of exon 58. In the case of (CAG)n, 101 genotypes were observed, with genotype number varying from 15 in Southeastern Bashkirs to 34 in Mari. Allele diversity RS ranged from 9.70 in Southeastern Bashkirs to 18.00 in Chuvash, averaging 13.79 +/- 2.12. The (CAG)n allele frequency distribution was unimodal and had a maximum at (CAG)17. In the case of (CCG)n, six alleles with 6-10 or 12 repeats were observed. RS was 4.13 +/- 0.44, ranging from 3.73 in Udmurts to 4.99 in Tatars. In the case of del2642, allele del- was detected at a frequency 0.830 in Mari to 0.932 in Udmurts. Of all Volga-Ural ethnic populations, Finno-Ugric ones proved to be most heterogeneous with respect to the three polymorphisms, whereas Turkic populations and, in particular, Bashkirs were homogeneous. Micro-differentiation of the Volga-Ural populations corresponded to the European type.
对伏尔加 - 乌拉尔地区的11个群体进行了亨廷顿病基因(IT15)的三个基因内多态性分析,包括外显子1的高度多态性(CAG)n和中度多态性(CCG)n以及外显子58的中性缺失2642。对于(CAG)n,观察到101种基因型,基因型数量从东南巴什基尔人的15种到马里人的34种不等。等位基因多样性RS范围从东南巴什基尔人的9.70到楚瓦什人的18.00,平均为13.79±2.12。(CAG)n等位基因频率分布是单峰的,在(CAG)17处达到最大值。对于(CCG)n,观察到6个具有6 - 10或12个重复的等位基因。RS为4.13±0.44,范围从乌德穆尔特人的3.73到鞑靼人的4.99。对于缺失2642,等位基因del - 的检测频率在马里为0.830,在乌德穆尔特人为0.932。在伏尔加 - 乌拉尔所有民族群体中,芬兰 - 乌戈尔人在这三种多态性方面最为异质,而突厥群体,特别是巴什基尔人则较为同质。伏尔加 - 乌拉尔群体的微分化符合欧洲类型。