In Uzbekistan, scientists from the Center for Advanced Technologies have conducted a comprehensive DNA study for the first time, aimed at creating a national genetic map. According to Gazeta.uz, the method of whole exome sequencing (WES) was used, allowing the analysis of DNA regions where the most significant clinical mutations are located. The study included 250 children, among whom were both healthy and those suspected of having hereditary diseases.
The research revealed that 86% of the examined children are carriers of at least one pathological gene. Scientists attribute this to the high level of consanguineous marriages in the country, which in some regions reaches 25% of the total number of marriages. Experts from the center noted that without systematic screening and genetic counseling, the risk of developing severe hereditary diseases in future generations will increase.
During the study, scientists discovered dozens of previously unknown gene variants characteristic of the Uzbek population. A precise genetic diagnosis was established for 52% of participants, opening new opportunities for targeted treatment. Additionally, 15% of the children had multiple hereditary diseases simultaneously. In 79% of recessive cases, homozygous mutations were registered, where both parents pass the same defective gene to the child.
Professor Shahlo Turdikulova, Vice President of the Academy of Sciences and head of the "Thousand Genomes of Uzbekistan" project, reported that the data obtained are already being added to international databases, which contributes to more accurate interpretation of genetic studies and the creation of a local reference database for the diagnosis and prevention of hereditary diseases. She emphasized the importance of screening programs for couples before marriage and the expansion of genetic services to reduce risks.
This study has become part of the national project "Thousand Genomes of Uzbekistan," which aims to create a genetic map of the population and a national biobank. Experts from the center claim that this will accelerate the diagnostic process, reduce treatment costs, develop personalized medicine, and support the training of specialists in the fields of medical genetics, bioinformatics, and molecular biology.
