The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin
By comparing the information gathered with historical data on migration patterns in the Middle Volga region and estimating the age of the variant's dissemination, we propose hypotheses regarding its origin and the pathways through which it spread. In the current context of increased rate of interethnic marriages, investigating the spread of common pathogenic variants from historically isolated populations is important for molecular genetic diagnosis. This approach aids in optimizing diagnostic processes and reducing the diagnostic odyssey for patients.
Authors
- Andrey V. Marakhonov (ORCID: https://orcid.org/0000-0002-0972-5118)
- Е. В. Сайфуллина (ORCID: https://orcid.org/0000-0001-9552-8948)
- Aysylu F. Murtazina (ORCID: https://orcid.org/0000-0001-7023-7378)
- Р. А. Зинченко (ORCID: https://orcid.org/0000-0003-3586-3458)
- Artem O. Borovikov (ORCID: https://orcid.org/0000-0001-5871-8005)
- Sofya Ionova (ORCID: https://orcid.org/0000-0002-1326-8706)
- Polina Chausova (ORCID: https://orcid.org/0000-0002-0431-1477)
- Sergey I. Kutsev (ORCID: https://orcid.org/0000-0002-3133-8018)
- О. П. Рыжкова (ORCID: https://orcid.org/0000-0003-1285-9093)
- Dmitrii Subbotin (ORCID: https://orcid.org/0009-0007-9862-0273)
- Leila Akhmadeeva
Institutions
- Bashkir State Medical University (RU)
- Research Centre for Medical Genetics (RU)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2024-12-11
- DOI
- https://doi.org/10.3389/fgene.2024.1511304
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministry of Science and Higher Education of the Russian Federation