Korytina G F, Viktorova T V, Khusnutdinova E K
Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, 450054 Russia.
Mol Biol (Mosk). 2002 May-Jun;36(3):442-6.
The allele and genotype frequencies of the tetranucleotide tandem repeat (TTR) of CFTR intron 6B were analyzed in eight ethnic populations of the Volga-Ural region, including Bashkir, Tatar, Chuvash, Mari, Mordvinian, Udmurt, Komi-Permyak, and Russian. The most common TTR allele 7 varied in frequency from 0.636 in Chuvash to 0.805 in Mordvinians. The frequency of the second common allele 7 ranged from 0.188 in Mordvinians to 0.333 in Chuvash. Allele 8 was found in about 8% of Udmurts and Mari; occurred in a few Bashkirs, Tatars, Mordvinians, and Komi-Permyaks; and was not observed in Russians. The genetic diversity coefficient was minimal in Mordvinians (0.496) and in Tatars (0.505), indicating their low heterogeneity in TTR. The observed heterozygosity was maximal in Udmurts (0.532) and Komi-Permyaks (0.560) and minimal in Mordvinians (0.297). In total, the populations proved to be heterogeneous in TTR allele frequency distribution, the interpopulation difference being significant in most cases.
对伏尔加 - 乌拉尔地区的八个民族群体（包括巴什基尔人、鞑靼人、楚瓦什人、马里人、莫尔多瓦人、乌德穆尔特人、科米 - 彼尔米亚克人以及俄罗斯人）的囊性纤维化跨膜传导调节因子（CFTR）内含子6B的四核苷酸串联重复序列（TTR）的等位基因和基因型频率进行了分析。最常见的TTR等位基因7的频率在楚瓦什人中为0.636，在莫尔多瓦人中为0.805。第二常见等位基因7的频率在莫尔多瓦人中为0.188，在楚瓦什人中为0.333。在约8%的乌德穆尔特人和马里人中发现了等位基因8；在少数巴什基尔人、鞑靼人、莫尔多瓦人和科米 - 彼尔米亚克人中出现；而在俄罗斯人中未观察到。莫尔多瓦人（0.496）和鞑靼人（0.505）的遗传多样性系数最小，表明他们在TTR方面的异质性较低。观察到的杂合度在乌德穆尔特人（0.532）和科米 - 彼尔米亚克人（0.560）中最大，在莫尔多瓦人（0.297）中最小。总体而言，这些群体在TTR等位基因频率分布上被证明是异质的，在大多数情况下群体间差异显著。
