Mass Mutations Detected Among Uzbeks Due to Marriages Between Relatives

Арестова Татьяна Society
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In Uzbekistan, the first large-scale study of the human genome in the country's history has been conducted. Scientists from the Center for Advanced Technologies discovered numerous new genetic changes that had not previously been recorded in international databases. The results of the work were published on the Zamin.uz platform.

According to the study, about 86% of the surveyed children are carriers of at least one "damaged" gene, which is twice the global average. Every second child was found to have a hereditary mutation.
The main reason for the high mutation rate, scientists say, is the prevalence of marriages between relatives, which account for up to 25% of all unions in some regions.
Experts emphasize that such mutations increase the risk of developing not only hereditary diseases but also more common conditions, including diabetes, cardiovascular diseases, and cancers.

Professor Shahlo Turdikulova, head of the "1000 Genomes of Uzbekistan" project, noted that the study provided an opportunity to see the real genetic picture of the population: "If most children have hidden hereditary mutations, it is impossible to stop this process without preventive measures and genetic counseling."
Scientists strongly recommend implementing mandatory genetic testing for couples before marriage and conducting early screening for children to timely identify diseases and start treatment.
Based on the project conducted, there are plans to develop a genetic map of the population and create a national biobank, which will serve as the foundation for the development of personalized medicine and new approaches in diagnostics and therapy.

The Center for Advanced Technologies, which conducted this research, previously worked on identifying new strains of the coronavirus and developing the ZF-UZ-VAC 2001 vaccine. Experts note that the country is entering a new era of genomic research.
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