EPHA1 gene SNPs analysis in population of Ukraine

• Дата: 2013
• Автори: Gulkovskyi, R.V., Chernushyn, S.Y., Kravchenko, S.A., Bychkova, G.M., Livshits, L.A.
• Формат: Стаття
• Мова: English
• Опубліковано: Інститут молекулярної біології і генетики НАН України 2013
• Назва видання: Вiopolymers and Cell
• Теми: Biomedicine
• Онлайн доступ: http://dspace.nbuv.gov.ua/handle/123456789/153675
• Назва журналу: Digital Library of Periodicals of National Academy of Sciences of Ukraine
• Цитувати: EPHA1 gene SNPs analysis in population of Ukraine / R.V. Gulkovskyi, S.Y. Chernushyn, S.A. Kravchenko, G.M. Bychkova, L.A. Livshits // Вiopolymers and Cell. — 2013. — Т. 29, №. 6. — С. 506-510. — Бібліогр.: 15 назв. — англ.

Aim. Analysis the EPHA1 gene G1475A and G1891A alleles distribution in the population of Ukraine, and to study the protein secondary structure as the first step in the investigation of EPHA1 gene involvement in intellectual disability pathogenesis. Methods. Observation group consisted of 300 individuals, including 164 (54.6 %) male and 136 (45.3 %) female individuals. Polymorphic variants were detected using PCR followed by Kpn1 RFLP analysis for G1475A and ARMS PCR analysis for G1891A. Results. The data concerning EPHA1 genotypes and allelic variants distribution were obtained. The low frequency of 1475A allele (0,012) and the absence of 1891A allele (not previously described) were revealed in the population of Ukrainian. Conclusions. Assays for the detection of EPHA1 gene G1475A and G1891A SNPs based on ARMS and restriction analysis were developed and the preliminary data on distribution of G1475A and G1891A polymorphisms in the population of Ukraine were obtained.