1(3)04

Nauka innov. 2005, 1(3):62-69
https://doi.org/10.15407/scin1.03.062

L. A. Livshits, V. M. Pampukha, O. A. Yasinska, G. B. Livshits, N. V. Hryshchenko, S. A. Kravchenko, M. V. Nechyporenko, G. V. Yelska
Institute of Molecular Biology and Genetics, NAS of Ukraine, Kyiv

 

Creation and Application of Test-Kits for Hereditary Diseases Gene Diagnostics to Medical Practice

Section: Scientific and Technical Innovative Projects of National Academy of Sciences of Ukraine
Language: Ukrainian
Abstract: Test-systems and their exhibition working samples based on the DNA-analysis for diagnosis most spread in Ukraine monogenic hereditary disorders such as: cystic fibrosis, hereditary chromatosis, Martin-Bell syndrome (fragile X), genetic forms of male infertility were elaborated. The elaborated test-systems would be used in special medical centers for medical genetics, pediatric and in IVF clinics, which apply assessment reproductive technologies
Key words:  mutations, cystic fibrosis, hereditary chromatosis, Martin-Bell syndrome (fragile X), azoospermia factor, DNA-diagnosis, PCR.

References:
1. Livshyc' L.A., Maljarchuk S.G., Ekshyjan O.Ju., Kravchenko S.A., Nechyporenko M.V., Pampuha V.M., Bychkova A.M., Myhajlec' L.P., Afanas'jeva N.O., Sopko N.I., Baryljak I.R. Genetyka i selekcija v Ukrai'ni na mezhi tysjacholit' u chotyr'oh tomah: Molekuljarno-genetychni doslidzhennja ta DNK-diagnostyka najbil'sh poshyrenyh v Ukrai'ni spadkovyh zahvorjuvan' monogennoi' pryrody. Kyiv: Logos, 2001, 4:604–622 [in Ukrainian].
2. Livshyc' L.A., Jasins'ka O.A. Rol' mikrodelecij hromosomnoi' oblasti Yq11 v rozvytku neobstruktyvnyh form cholovichogo bezpliddja. Cytologija i genetyka, 2002, 36(5):73–78 [in Ukrainian].
3. Pampuha V.M., Rozumenko V.D., Cherchenko A.P., Livshyc' L.A. Analiz mutacij C282Y ta H63D genu spadkovogo gemohromatozu HFE sered naselennja Ukrai'ny ta hvoryh z glial'nymy puhlynamy mozku. Biopolym. Cell., 2003, 19(6):536–541 [in Ukrainian].
4. Grishhenko N.V., Maljarchuk S.G., Jekshijan A.Ju., Bychkova A.M., Livshic L.A. Analiz metilirovanija promotornoj oblasti gena FMR1 u bol'nyh s sindromom Martina-Bella iz Ukrainy. Citologija i genetika, 2002, 36(4):53–56 [in Russian].
5. Maniatis T., Frich E.E., Sjembruk Zh. Molekuljarnoe klonirovanie. M.: Mir, 1985 [in Russian].
6. Kerem B., Rommens J.M., Buchanan J.A. et al. Identification of the cystic fibrosis gene: genetic analysis. Science, 1989, 245:1073–1080 [in English].
https://doi.org/10.1126/science.2570460
7. Feder J.N., Gnirke A., Thomas W. et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genet, 1996, 13:399–408 [in English].
https://doi.org/10.1038/ng0896-399
8. Webb T.P., Bundey S.E., Thake A.I., Todd J. Population incidence and segregation ratios in the Martin-Bell syndrome. Am. J. Med. Genet, 1986, 23:573–580 [in English].
https://doi.org/10.1002/ajmg.1320230151
9. Tiepolo L., Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum.Genet, 1976, 34:119–124 [in English].
https://doi.org/10.1007/BF00278879