Population genetics of hereditary diseases in the child population of the Republic of Bashkortostan, Chuvashia, and Udmurtia

Population genetics of hereditary diseases in the child population of the Republic of... The results of integrated study of the genetic structure and prevalence of monogenic hereditary diseases (MHDs) in the child population of three republics of Russia are summarized. Eight raions (districts) of the Republic of Bashkortostan and six districts of each Republic of Chuvashia and Republic of Udmurtia has been surveyed. The total population surveyed was 782184 people, with children accounting for 24.67% of them (192 992 children). The loads of autosomal dominant (AD), autosomal recessive (AR), and X-linked MHDs have been calculated separately for urban and rural populations; differences between individual populations in the MHD load have been found. The differentiation of subpopulations with respect to MHD prevalence is explained by differences in the degree of subdivision. The MHD spectrum in the child population of the three republics comprises 222 disease entities, including 121 AD, 83 AR, and 18 X-linked diseases. Group of highly prevalent MHDs in regional child populations have been determined. The mean fitness of MHD patients in Bashkortostan has been calculated; it is 0.87, 0.04 and 0.16 for AD, AR, and X-linked diseases, respectively. Analysis has demonstrated that the prevalence rates of MHDs in the child populations of the republics of Chuvashia, Udmurtia, and Bashkortostan are 1, 1.2, and 1.4%, respectively. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Russian Journal of Genetics Springer Journals

Population genetics of hereditary diseases in the child population of the Republic of Bashkortostan, Chuvashia, and Udmurtia

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Publisher
Springer Journals
Copyright
Copyright © 2012 by Pleiades Publishing, Ltd.
Subject
Biomedicine; Human Genetics; Microbial Genetics and Genomics; Animal Genetics and Genomics
ISSN
1022-7954
eISSN
1608-3369
D.O.I.
10.1134/S1022795412040035
Publisher site
See Article on Publisher Site

Abstract

The results of integrated study of the genetic structure and prevalence of monogenic hereditary diseases (MHDs) in the child population of three republics of Russia are summarized. Eight raions (districts) of the Republic of Bashkortostan and six districts of each Republic of Chuvashia and Republic of Udmurtia has been surveyed. The total population surveyed was 782184 people, with children accounting for 24.67% of them (192 992 children). The loads of autosomal dominant (AD), autosomal recessive (AR), and X-linked MHDs have been calculated separately for urban and rural populations; differences between individual populations in the MHD load have been found. The differentiation of subpopulations with respect to MHD prevalence is explained by differences in the degree of subdivision. The MHD spectrum in the child population of the three republics comprises 222 disease entities, including 121 AD, 83 AR, and 18 X-linked diseases. Group of highly prevalent MHDs in regional child populations have been determined. The mean fitness of MHD patients in Bashkortostan has been calculated; it is 0.87, 0.04 and 0.16 for AD, AR, and X-linked diseases, respectively. Analysis has demonstrated that the prevalence rates of MHDs in the child populations of the republics of Chuvashia, Udmurtia, and Bashkortostan are 1, 1.2, and 1.4%, respectively.

Journal

Russian Journal of GeneticsSpringer Journals

Published: May 15, 2012

References

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