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Ethnic-specific diseases and their prevention in Yakutia
https://doi.org/10.25557/2073-7998.2025.09.63-65
Abstract
The aim of this study was to select and define a list of hereditary diseases in the Yakut population for pilot molecular genetic screening for major mutations in prenatal and neonatal screening programs.. 17 diseases and major mutations were identified, 13 of which can be included in the list of candidate genes of hereditary diseases for the Molecular Genetic Screening Program within the framework of expanded neonatal or early prenatal screening programs.
Supporting agencies: Genomics of the Arctic: Diagnostics, Prevention and Treatment» (No. FSRG-2024–0001).
About the Authors
N. R. Maksimova
North-Eastern Federal University
Russian Federation
Russian Federation
58, Belinskogo st., Yakutsk, 677000
A. L. Sukhomyasova
North-Eastern Federal University
Russian Federation
Russian Federation
58, Belinskogo st., Yakutsk, 677000
I. A. Nikolaeva
North-Eastern Federal University; Republican Hospital No. 1-National Center of Medicine No. 1
Russian Federation
Russian Federation
8, Belinskogo st., Yakutsk, 677000; 4, Sergelyakhskoe shosse, Yakutsk, 677010
References
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2. Barashkov N.A., Borisova T.V., Gerasimova A.A., et al. Reconstruction of the founder haplotype with mutation c.644G>A p. (Trp215*) in the CLIC5 gene, leading to juvenile autosomal recessive deafness (DFNB103) in Yakutia. Meditsinskaya genetika [Medical Genetics]. 2021;20(7):15-25. (In Russ.)
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Review
For citations:
Maksimova N.R., Sukhomyasova A.L., Nikolaeva I.A. Ethnic-specific diseases and their prevention in Yakutia. Medical Genetics. 2025;24(9):63-65. (In Russ.) https://doi.org/10.25557/2073-7998.2025.09.63-65
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