Head of Department:
Kurtanov Khariton Alekseevich, Ph.D.
The Department performs research on the topic: “The study of the genetic structure and the load of hereditary diseases of the Sakha Republic (Yakutia) populations”.
- The study of the frequency and spectrum of congenital abnormalities, hereditary and multifactorial diseases in the indigenous people of Sakha (Yakutia).
- Molecular genetic study of common monogenic diseases to develop measures to reduce the load of hereditary diseases in the region, the optimization for DNA diagnosis of these diseases.
- Genetical-epidemiological and molecular genetic studies of rare hereditary syndromes.
- Molecular genetic study of multifactorial diseases.
- Genetic -demographic and molecular – genetic studies of the structure of the gene pool of the Sakha (Yakutia) Republic indigenous people, their origin, evolution and genetic relationships.
Structurally the Department of Molecular Genetics consists of three laboratories:
Yakut syndrome with short stature is included in the OMIM database as a synonym for 3-M syndrome.
Detail of the results of the automatic sequencing of exon 25 of the gene CUL7 in Yakut patient with short stature.
There is the patent for “Method for DNA diagnostics of 3-M syndrome in the Yakut population.” Authors: Maximova N.R., Nogovitsyna A.N., Suhomyasova A.L.
The patent number 2448163 “Method of detecting of 17 mutations of genes GJB2 and GJB6 in hereditary non-syndromic deafness”, April 20, 2012. The authors: Barashkov N.A., Dzemileva L.U., Posukh O.L., Fedorova S.A., Khusnutdinova E.K.
Patent number 2648464. “Method of DNA diagnosis of congenital cataract form (CTRCT18)”. Authors: Barashkov N.A., Solovyov A.V., Tarutin F.M., Pshennikova G.V., Romanov G.P., Gotovtsev. N.N., Fedorova S.A. 26 March 2018.
The Republican Hospital No. 1- National Medical Center