It has been reported that previously unknown genetic mutations have been identified in Uzbekistan. This was reported by Zamin.uz.
Scientific studies link this situation to marriages between close relatives. Scientists from the Advanced Technologies Center of Uzbekistan conducted extensive genetic research and studied the genomes of the population.
During the study, 250 children were examined, and those suspected of being healthy or having hereditary diseases were selected. As a result, gene variants specific to the country's population and previously unknown were identified.
The research shows that every second child affected by rare diseases carries hereditary mutations. Interestingly, 28 percent of the identified gene variants were previously unknown to science.
The examination results indicate that 86 percent of children are carriers of at least one pathological gene. For comparison, in developed countries, the proportion of pathological gene carriers does not exceed 50-60 percent.
Experts explain this situation by the widespread prevalence of marriages between close relatives. In some regions, such marriages constitute 25 percent of all marriages.
Such marriages increase the risk of genetic diseases. For example, diseases like cystic fibrosis and spinal muscular atrophy can serve as examples.
During the study, a precise genetic diagnosis was made for 52 percent of patients, enabling targeted treatment. Additionally, 15 percent of patients were found to have two or more hereditary pathologies simultaneously.
Currently, marriages between close relatives are associated with many cultural and social factors. Historically, such marriages were arranged to preserve wealth and strengthen family ties.
However, today such marriages increase genetic risks and pose a threat to public health. According to international experience, to reduce genetic risks, it is important to provide genetic counseling before marriage, introduce legal restrictions, and offer extensive information to the population.
For example, countries like Iran and Saudi Arabia have implemented such programs, significantly reducing the number of congenital diseases. This issue has also been discussed in Uzbekistan.
In 2023, a draft law was presented to restrict marriages between relatives and make genetic testing mandatory before marriage. However, this law has not yet been adopted.
Experts emphasize that increasing the population's genetic literacy and expanding educational work is the most effective way. Every citizen should seriously consider their own health and that of future generations.
