Frequency of Mutations Associated with the Development of Hereditary Hemochromatosis Type I, Wilson–Konovalov Disease, and Familial Mediterranean Fever and Peculiarities of Their Distribution in the Russian Population

This article is a continuation of the series of works devoted to determining the frequency of mutations associated with the development of common monogenic diseases among the representatives of the Russian population. The frequencies of mutations in the genes HFE , ATP7B , and MEFV in primary blood...

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Bibliographic Details
Published in:Russian journal of genetics 2021, Vol.57 (1), p.83-89
Main Authors: Abramov, D. D., Kadochnikova, V. V., Yakimova, E. G., Belousova, M. V., Maerle, A. V., Sergeev, I. V., Kozlov, I. B., Donnikov, A. E., Kofiadi, I. A., Trofimov, D. Yu
Format: Article
Language:English
Subjects:
Animal Genetics and Genomics
Biomedical and Life Sciences
Biomedicine
Human Genetics
Microbial Genetics and Genomics
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Summary:This article is a continuation of the series of works devoted to determining the frequency of mutations associated with the development of common monogenic diseases among the representatives of the Russian population. The frequencies of mutations in the genes HFE , ATP7B , and MEFV in primary blood donors who identify themselves as Russians and permanently reside in the Russian Federation were established. The method of adjacent probes was used for SNP genotyping. Genotyping revealed 57 carriers of the C282Y mutation of the HFE gene, the most significant in the development of hemochromatosis type I (the frequency in the sample of 911 donors was 6.3%, or 1 : 16), and 18 carriers of the H1069Q mutation in the ATP7B gene, associated with the development of Wilson–Konovalov disease (the frequency in the sample of 1032 donors was 1.7%, or 1 : 57). A high frequency of the K695R mutation in the MEFV gene (the frequency in the sample of 1212 donors was 7.3%, or 1 : 14), associated with the development of familial Mediterranean fever, characterized by a mild phenotype and incomplete penetrance, was also established.
ISSN:1022-7954
1608-3369
DOI:10.1134/S1022795421010026