The Load of Hereditary Diseases in the Population of Republic of Sakha (Yakutia)

被引：0
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作者：
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
机构：
[1] Russian Academy of Sciences,Institute of Molecular Genetics
[2] Russian Academy of Medical Sciences,Research Center for Medical Genetics
[3] Ministry of Public Health of Republic of Sakha (Yakutia),Institute of Health
[4] Yakutsk,undefined
[5] Republican Center for Emergency Medical Care,undefined
[6] Yakutsk,undefined
[7] National Center of Medicine,undefined
[8] Yakutsk,undefined
[9] Yakut Republican Ophthalmologic Hospital,undefined
[10] Yakutsk,undefined
[11] Academy of Sciences of Republic of Sakha (Yakutia),undefined
[12] Yakutsk,undefined
[13] Yakut State University,undefined
[14] Yakutsk,undefined
来源：
Russian Journal of Genetics | 2003年 / 39卷
关键词：
Prevalence Rate; Total Population; Hereditary Disease; Urban Population; Rural Population;
D O I：
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中图分类号：
学科分类号：
摘要：
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.
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页码：1461 / 1464
页数：3
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