Department of Human Genomics

The research mainly concerns:

Determination of molecular and genetic nature of mutations in both expressive and nonexpressive regions of human genome.

The major topics of current research in the Department encompass:

• Studies on the nature, origin and prevalence of the mutations that cause monogenic hereditary diseases. Scientists of the Department are working at the development of new methods of DNA diagnostics (including prenatal diagnostics) of severe hereditary diseases with early infantile mortality and grave disablement, such as mucoviscidosis, phenylketonuria, Hoffmann's muscular atrophy, muscular Duchenne and Becker dystrophy, haemophilia A, Huntington's chorea, Martin-Bell syndrome, hemochromatosis, corneal dystrophy etc. The DNA diagnostics obtained have been offered for practical use. The nature of genetically-related damages of reproductive health (male and female sterility) is also a subject of investigations.
• The exploration of the genetic structure and biological history of regional human populations in Ukraine is under way.
• New techniques and molecular markers for DNA -analysis for genotypic identification are being elaborated and offered for practical use in forensic medical examination. They are used for the identification of personality and affiliation.

Selected publications:

1. Reznik B.Ya., Livshits L.A. Mucoviscidosis in children and young people// Kiev. Zdorov'a, 1994. p 144.
2. Livshits L.A., Malyarchuk S.G., Kravchenko S.A., Matsuka G.H., Lukyanova E.M., Antipkin Y.G., Arabskaya L.P., Petit E., Giraudeau F., Gourmelon P., Vergnaud G., Le Guen B. Children of Chernobyl Cleanup Workers do not Show Elevated Rates of Mutations in Minisatellite Alleles / Radiat Res. – 2001. – vol.155, № 1. – P. 74-80.
3. Rosser Z., Zerjal T., Hurles M., Adojaan M., Alavantic В., Amorim A., Amos W., Armenteros M., Arroyo E., Barbujani G., Beckman G., Beckman L., Bertranpetit J., Bosch E., Bradley D.G., Brede G., Cooper G., Corte-Real HB., de Knijff P., Decorte R., Dubrova YE., Evgrafov O., Gilissen A., Glisic S., Golge M., Hill EW., Jeziorowska A., Kalaydjieva L., Kayser M., Kivisild T., Kravchenko S.A., Krumina A., Kucinskas V., Lavinha J., Livshits L., Malaspina P., Maria S., McElreavey K., Meitinger T.A., Mikelsaar A.V., Mitchell RJ., Nafa K., Nicholson J., Norby S., Pandya A., Parik J., Patsalis P.C., Pereira L., Peterlin B., Pielberg G., Prata MJ., Previdere C., Roewer L., Rootsi S., Rubinsztein D.C., Saillard J., Santos FR., Stefanescu G., Sykes BC., Tolun A., Villems R., Tyler-Smith C., Jobling M.A Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language / Amer.J. Hum. Gen. – 2000. – vol. 67, № 6. – P. 1526-1543.
4. Tighe O., Dunican D., O’Neill C., Bertorelle G., Beattie D., Graham C., Zschocke J., Cali F., Romano V., Hrabincova E., Kozak L., Livshits L.A., Nechyporenko M., Guldberg P., Jurkowska M., Zekanowski C., Peres B., Desviat L., Ugarte M., Kucinskas V., Knappskog P., Treacy E., Naughten E., Tyfield L., Byck S., Scriver C., Mayne P., Croke D. Genetic diversity within the R408W phenylketonuria mutation lineages in Europe / Hum. Mut., 2003, V. 21, P. 387-393.
5. Pampukha V.M., Drozhyna G.I., Livshits L.A. TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine / Ophtalmologica, № 216, 2004, pp. 411-414.
6. Livshits L.A., Kravchenko S.A., Gryshko V.I., Malarchuk S.G., Yekshiyan O.Yu., Nechiporenko M.V., Pampukha V.M., Bychkova G.M., Mykhailets L.P., Sopko N.I., Skyban G.V., Antypkin Yu.G., Lukyanova E.M., Buzhievska T.I. Matsuka G.H. DNA-diagnostics of common mutagenic hereditary diseases of monogenic nature in Ukraine. (10-year experience of DNA-diagnosytics in Ukraine)// Perinatology and pediatrics. - 2000. - № 1 p. 3-7.