Biopolym. Cell. 2013; 29(6):506-510.
http://dx.doi.org/10.7124/bc.000841
Molecular Biomedicine
EPHA1 gene SNPs analysis in population of Ukraine
1, 2Gulkovskyi R. V., 1Chernushyn S. Y., 1Kravchenko S. A., 1Bychkova G. M., 1Livshits L. A.
  1. Institute of Molecular Biology and Genetics, NAS of Ukraine
    150, Akademika Zabolotnoho Str., Kyiv, Ukraine, 03680
  2. Educational and Scientific Center "Institute of Biology",
    Taras Shevchenko National University of Kyiv
    64/13, Volodymyrska Str., Kyiv, Ukraine, 01601

Abstract

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.
Keywords: EPHA1 gene, polymorphism, population
Full text: (PDF, in English)

References

[1] Klein R. Eph/ephrin signaling in morphogenesis, neural development and plasticity Curr. Opin. Cell Biol 2004 16, N 5 P. 580–589.
[2] Poliakov A., Cotrina M., Wilkinson D. G. Diverse roles of eph receptors and ephrins in the regulation of cell migration and tissue assembly Dev. Cell 2004 7, N 4:465–480.
[3] Zisch A. H., Pasquale E. B. The Eph family: a multitude of receptors that mediate cell recognition signals Cell Tissue Res 1997 290, N 2:217–226.
[4] Depaepe V., Suarez-Gonzalez N., Dufour A., Passante L., Gorski J. A., Jones K. R., Ledent C., Vanderhaeghen P. Ephrin signalling controls brain size by regulating apoptosis of neural progenitors Nature 2005 435, N 7046:1244–1250.
[5] Cooke J. E., Moens C. B. Boundary formation in the hindbrain: Eph only it were simple... Trends Neurosci 2002 25, N 5 P. 260–267.
[6] Flanagan J. G., Vanderhaeghen P. The ephrins and Eph receptors in neural development Annu. Rev. Neurosci 1998 21 P. 309–345.
[7] Maru Y., Hirai H., Takaku F. Overexpression confers an oncogenic potential upon the eph gene Oncogene 1990 5, N 3 P. 445–447.
[8] Abdul-Aziz N. M., Turmaine M., Greene N. D., Copp A. J. Ephrin A-EphA receptor interactions in mouse spinal neurulation: implications for neural fold fusion Int. J. Dev. Biol 2009 53, N 4 P. 559–568.
[9] Duffy S. L., Steiner K. A., Tam P. P., Boyd A. W. Expression analysis of the Epha1 receptor tyrosine kinase and its high-affinity ligands Efna1 and Efna3 during early mouse development Gene Expr. Patterns 2006 6, N 7:719–723.
[10] Maniatis T., Fritsch E. F., Sambrook J. Molecular cloning: a laboratory manual New York: Cold Spring Harbor Lab. press, 1982 545 p.
[11] Cordell H. J., Clayton D. G. Genetic association studies Lancet 2005 366, N 9491:1121–1131.
[12] Balding D. J. A tutorial on statistical methods for population association studies Nat. Rev. Genet 2006 7, N 10:781–791.
[13] Sanger F., Nicklen S., Coulson A. R. DNA sequencing with chainterminating inhibitors Proc. Natl Acad. Sci. USA 1977 74, N 12:5463–5467.
[14] Naj A. C., Jun G., Beecham G. W. et al. Common variants at MS 4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's Disease Nat. Genet 2011 43, N 5 P. 436–441.
[15] Hollingworth P., Harold D., Sims R. et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA 1, CD33 and CD2AP are associated with Alzheimer's disease Nat. Genet 2011 43, N 5:429–435.