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L. A. Tarskaya R. A. Zinchenko G. I. Elchinova A. G. Egorova M. N. Korotov E. V. Basova A. M. Prokopeva E. N. Sivtseva E. E. Nikolaeva E. S. Banshchikova M. V. Samarkina A. N. Sannikova G. I. Danilova A. F. Jhelobtsova A. P. Danilova G. N. Popova 《Russian Journal of Genetics》2003,39(12):1461-1464
Summarized data of medical genetic survey of the population of Republic of Sakha (Yakutia) are presented. The number of the population examined constituted 1 000 700 individuals (including 424 500 of urban and 576 200 of rural population, respectively). Regarding the ethnicity, 33 regions of the Republic examined were at most inhabited by Yakuts (36%) and Russians (55%). A total of 400 families (606 patients) with autosomal dominant, 274 families (369 patients) with autosomal recessive, and 42 families (53 patients) with X-linked pathologies were detected. The segregation analysis performed showed good correlation with the expected type of inheritance for both dominant and recessive diseases. The prevalence rate of monogenic hereditary diseases for rural and urban populations, as well as for solely Yakuts, was calculated. It was shown that weighted average prevalence of dominant (0.68; 1.44) and recessive (0.43; 0.86) disorders in Yakuts was two times higher than in total population examined. 相似文献
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Tarskaia L. A. Zinchenko R. A. Elchinova G. I. Egorova A. G. Korotov M. N. Basova E. V. Prokopeva A. M. Sivtseva E. N. Nikolaeva E. E. Banshikova E. S. Samarkina M. V. Sannikova A. N. Danilova G. I. Jhelobtsova A. F. Danilova A. P. Popova G. N. 《Russian Journal of Genetics》2004,40(11):1264-1272
The diversity of Mendelian hereditary pathology has been studied in Sakha Republic (Yakutia). The sample comprised 1 000 700 subjects, including 363 316 Yakuts, 14 428 Evenks, 8668 Evens, 550 263 Russians, and 64 025 subjects from other ethnic groups. Fifty-one autosomal dominant (AD) diseases, including five diseases with frequencies of 1 : 50 000 or higher; 40 autosomal recessive (AR) diseases, including eight diseases with frequencies of 1 : 50 000 or higher in the Yakut population; and five X-linked diseases have been detected. 相似文献
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