Test for the indigenous population

NEFU geneticists have invented a chip for the express detection of five hereditary diseases common in Yakutia

Alexandra Kurchatov, NEFU Press Service

The educational and scientific laboratory "Genomic Medicine" of the North-Eastern Federal University claims that the innovative author's technique allows you to get results in just four hours for five hereditary diseases that are most common among the population of Yakutia.

As a researcher at the NEFU laboratory Mira Savvina tells, previously, separate testing and many times more time was required to detect each disease. "The biochip is a glass slide on which genetic markers in the form of oligonucleotides are applied. We have selected from the existing database of hereditary mutations in our laboratory the most common among the Yakut ethnic group and suitable for diagnosis in such an innovative way," explains the scientist. The biochip of Yakut scientists includes the diagnosis of mutations characteristic of Yakuts that cause diseases such as 3M syndrome (short stature syndrome), SOPH syndrome (short stature syndrome with optic nerve atrophy), tyrosinemia, methemoglobinemia and congenital nonsyndromic deafness.

The collection of the database of hereditary mutations of the indigenous population of Yakutia was carried out by Yakut geneticists for more than ten years. The work on the chip itself took three years, and took place within the framework of the grant of the Federal Target Program "Research and development in priority areas of development of the scientific and technological complex of Russia".

"After receiving all the patent documentation, we plan to introduce new technologies into mass diagnostics so that everyone can contact the laboratory and check their genetic background for the principle of carrier," informs geneticist Mira Savvina.

Portal "Eternal youth" http://vechnayamolodost.ru  12.04.2017