Previously unknown genetic mutations to the world of science have been discovered in Uzbekistan. Scientific studies show that these mutations are linked to marriages between close relatives.
Detailed information on this was presented by the author of "QULOQ News" in a video on their YouTube platform. Scientists from Uzbekistan's Center for Advanced Technologies conducted the country's first comprehensive genetic study and analyzed the genomes of the population.
The research was carried out using the whole exome sequencing (WES) method. With this method, clinically significant mutation-rich regions of DNA are examined.
During the study, 250 children were examined, and those suspected of being healthy and those with possible hereditary diseases were selected. As a result, gene variants unique to the country’s population, and previously unknown, were identified.
Among children suffering from rare diseases, one out of every two was found to have hereditary mutations, and 28 percent of the discovered gene variants were previously unknown to science. It was revealed that 86 percent of the children examined were carriers of at least one pathological gene.
For comparison, international studies indicate that in the general population the share of pathological gene carriers is usually 30–40 percent; in developed countries, this figure does not exceed 50–60 percent. Scientists associate this with the high rate of marriages between close relatives in Uzbekistan.
In some regions, such marriages account for 25 percent of all marriages. During the research, 52 percent of patients were given an exact genetic diagnosis, providing them with the possibility for targeted treatments.
Additionally, in 15 percent of patients, it was found that two or more hereditary pathologies were present simultaneously. Studies show that 79 percent of recessive diseases showed homozygous mutations, meaning the child received the same unhealthy gene from both parents.
This occurs in populations where marriages between relatives are widespread and increases the risk of genetic disorders. For example, such diseases include cystic fibrosis and spinal muscular atrophy.
Currently, marriages between close relatives are linked to many cultural, economic, and social factors. Historically, such unions were viewed as means of preserving wealth, strengthening family ties, and as a sign of trust.
Today, however, these types of marriages increase the risk of genetic disorders and pose a threat to public health. According to international experience, making genetic consultations mandatory before marriage, introducing legal restrictions, and providing information to the population are crucial measures to reduce genetic risks.
For example, countries like Iran and Saudi Arabia have implemented such programs, which have led to a significant reduction in the incidence of congenital diseases. The issue of marriages between close relatives has also been discussed many times in Uzbekistan.
In 2023, a committee drafted a bill proposing to restrict marriages between relatives and to make pre-marital genetic testing mandatory. However, this law has not yet been adopted.
Experts consider raising public genetic literacy, providing genetic counseling before marriage, and conducting extensive educational work to be the most effective approach. This is because enacted laws often prove powerless in the face of centuries-old traditions.
Therefore, every citizen needs to consider both their own health and that of future generations.
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