New genetic mutations previously unknown to world science have been discovered in Uzbekistan. Scientific research shows that this is due to marriages between close relatives.
The author of "QULOQ News" gave detailed information about this in a video on their YouTube platform. For the first time, scientists from the Uzbek Center for Advanced Technologies conducted a large-scale genetic study in the country, analyzing the genomes of the population.
The research was carried out using the method of whole exome sequencing (WES). This method studies sections of DNA where clinically significant mutations are more concentrated.
During the study, 250 children were examined, selected from healthy individuals and those suspected of hereditary diseases. As a result, previously unknown gene variants unique to the population were identified.
In every second child with rare diseases, an inheritable mutation was found, and 28% of the discovered gene variants were previously unknown to science. It was revealed that 86% of the examined children are carriers of at least one pathological gene.
For comparison, international studies show that the share of pathological gene carriers in the general population is usually 30–40%, while in developed countries this figure does not exceed 50–60%. Scientists link this situation to the high prevalence of marriages between close relatives in Uzbekistan.
In some regions, such marriages make up 25% of all marriages. During the study, a precise genetic diagnosis was established in 52% of patients, giving them the opportunity for targeted treatment.
Additionally, in 15% of patients, two or more hereditary pathologies were found at the same time. Studies indicate that in 79% of recessive diseases, homozygous mutations were observed, meaning the child received the same unhealthy gene from both parents.
This situation occurs in populations where marriages between close relatives are widespread and increases the risk of genetic diseases. For example, such diseases include cystic fibrosis and spinal muscular atrophy.
Currently, marriages between close relatives are related to many cultural, economic, and social factors. Historically, cousin marriages were considered a means of preserving wealth, strengthening family ties, and as a factor of trust.
Today, however, such marriages increase the risk of genetic diseases and pose a threat to public health. According to international experience, making genetic counseling mandatory before marriage, introducing legal restrictions, and informing the population are highly important for reducing genetic risks.
For example, such programs have been implemented in countries like Iran and Saudi Arabia, resulting in a significant decrease in congenital diseases. The issue of marriages between close relatives has also been discussed repeatedly in Uzbekistan.
In 2023, a draft law was developed by the Committee proposing to restrict marriages between relatives and make genetic testing before marriage mandatory. However, this law has not yet been adopted.
Experts consider increasing the population’s genetic literacy, providing genetic counseling before marriage, and conducting large-scale educational work to be the most effective approach. Because enacted laws often remain powerless against centuries-old traditions.
Therefore, every citizen needs to consider the health of themselves and future generations.
