In Uzbekistan, scientists from the Center for Advanced Technologies conducted a unique study of the genetic material of local residents, during which dozens of previously unknown mutations were discovered. According to the Ministry of Higher Education, Science and Innovation of the Republic of Uzbekistan, the results of this work represent a significant contribution to global genetics.
The research showed that nearly half of the children participating in the testing exhibited genetic anomalies. Some of them were diagnosed with signs of several hereditary diseases. According to the data, 86% of participants turned out to be carriers of at least one mutation. This level is twice as high as the global average. Researchers attribute this to the prevalence of marriages between relatives, which is observed in some regions of the country, where this practice affects up to a quarter of all unions formed.
According to the scientists, the identified mutations may increase the risk not only of rare hereditary diseases but also of more common conditions such as diabetes and cardiovascular diseases, as well as cancers.
Shakhlo Turdikulova, the director of the Center for Advanced Technologies and the head of the "1000 Genomes of Uzbekistan" project, emphasized: "For the first time, we have gained a complete understanding of the genetic structure of our people. If most children have hidden hereditary mutations, it is impossible to stop this process without implementing preventive measures and genetic counseling. Therefore, it is extremely important to develop screening programs for couples before marriage."
The collected data has now been entered into international databases, which has also been noted by the Ministry of Higher Education, Science and Innovation.
