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The peculiarities of polymorphism of XPD and XRCC1 repair genes in cells of down and Ehlers-Danlo syndrome patients characterized by increased radiosensitivity

  • Radiobiology and Radioecology
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Abstract

Codon 312 and 751 polymorphisms of XPD gene and codon 399 polymorphism of XRCC1 gene of peripheral blood lymphocytes in patients with Down syndrome (DS) (46 individuals) and Ehlers-Danlo syndrome (EDS) (47 individuals) and in a group of healthy donors (control) (40 individuals) were studied. The frequency of XPD genotype (G312G) coding for the most effectively functioning form of XPD protein was lower in patients with DS (26%) than in the group of healthy donors (42.5%) (p = 0.035), whereas no significant differences with the control were revealed for this codon in patients with EDS. No patients with XPD genotype (C751C) (p = 0.036) were revealed in the group of EDS patients, while this genotype was found in 16% of the group of healthy donors and in 17% of patients with DS. A trend of XRCC1 genotype frequency reduction (A399A) (p = 0.085) in EDS patients (3.9%) compared with the group of healthy donors (13.5%) and DS patients (13.3%) was obtained. These data showed that polymorphisms of the excision repair genes under study were accompanied by an elevated individual radiosensitivity in patients with DS. Genes investigated (their polymorphic variants) did not participate in the mechanisms for radiosensitive phenotype formation in EDS patients.

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References

  1. G. D. Zasukhina, Genetics (2005), Vol. 41, No. 4, pp. 520–530 [in Russian].

    Google Scholar 

  2. V. I. Ivanov, Genetics (Izd. Akademkniga, Moscow, 2006), p. 638 [in Russian].

    Google Scholar 

  3. R. Monaco, R. Rosal, and M. A. Dolan, J. Carcinogen, (2009), Vol. 8, No. 12, pp. 1–5.

    Google Scholar 

  4. M. Kiran, R. Saxena, and J. Kaur, Ind.J. Med. Res., (2010), No. 131, pp. 71–75.

  5. H. Nisa, S. Kono, and G. Yin, BMC Cancer, (2010), Vol. 10, No. 274, pp. 1–10.

    Google Scholar 

  6. A. L. Oliveira, F. F. Rodrigues, and R. E. Santos, Genet.Mol. Res., (2010), Vol. 9, No. 2, pp. 1045–1053.

    Article  Google Scholar 

  7. N. S. Kuz’mina, I. M. Vasil’eva, and T. A. Sinelschikova, Radiation Biology. Radioecology, (2006), Vol. 46, No. 4, pp. 424–428 [in Russian].

    Google Scholar 

  8. L. E. Salnikova, D. K. Fomin, and T. V. Elisova, Radiation Biology. Radioecology, (2008), Vol. 48, No. 2, pp. 279–289 [in Russian].

    Google Scholar 

  9. O. Zschenker and A. Raabe, Radiother. Oncol, (2010), Vol. 97, No. 1, pp. 26–32.

    Article  Google Scholar 

  10. A. P. Chudina, Genetics, (1968), Vol. 4, No. 6, pp. 99–111 [in Russian].

    Google Scholar 

  11. E. K. Khandogina, G. P. Mutovin, and A. P. Akif’ev, Bull. Exp. Biol. Med., (1991), Vol. 112, pp. 90–292.

    Article  Google Scholar 

  12. E. K. Khandogina, Genetics (2010), Vol. 46, No. 3, pp. 293–301 [in Russian].

    Google Scholar 

  13. A. P. Akif’ev, E. K. Khandogina, and G. P. Mutovin, Advances in Modern Genetics (Nauka, 1984), No. 12, pp. 182–219 [in Russian].

  14. L. V. Tskhovrebova, Radioadaptive Response in Human Cells and Its Modification, Extended Abstract of Candidate’s Dissertation in Biology (N. I. Vavilov Institute of General Genetics RAS, Moscow, 1998).

    Google Scholar 

  15. G. P. Makedonov, L. V. Tskhovrebova, A. N. Semyach- kina, and G. D. Zasukhina, Genetics (2000), Vol. 36, No. 3, pp. 393–398 [in Russian].

    Google Scholar 

  16. P. Gadhia, M. Gadhia, and H. Zankl, Mutat.Res., (1988), Vol. 207, pp. 153–158.

    Article  Google Scholar 

  17. Zh. M. Shagirova, L. N. Ushenkova, and V. F. Mikhailov, Radiation Biology. Radioecology (2010), Vol. 50, No. 2, pp. 128–133 [in Russian].

    Google Scholar 

  18. L. E. Mechanic, A. J. Marrogi, and J. A. Welsh, Carcinogenesis (2005), Vol. 26, No. 3, pp. 594–604.

    Google Scholar 

  19. E. J. Duell, J. K. Wiencke, and T. J. Cheng, Carcinogenesis (2000), Vol. 21, No. 5, pp. 965–971.

    Article  Google Scholar 

  20. K. Jelonek, A. Gdowicz-Klosok, and M. Petrovska, J. App. Genet. (2010), Vol. 51, No. 3, pp. 343–352.

    Article  Google Scholar 

  21. R. R. Misra, D. Ratnasinghe, and J. A. Tangrea, Cancer Lett. (2003), Vol. 191, No. 2, pp. 171–178.

    Article  Google Scholar 

  22. G. Matullo, A. M. Dunning, and S. Guarrera, Carcinogenesis (2006) Vol. 27, No. 5, pp. 997–1007.

    Article  Google Scholar 

  23. W. Ye, R. Kumar and G. Bacova, Carcinogenesis, (2006), Vol. 27, No. 9, pp. 1835–1841.

    Article  Google Scholar 

  24. K. Metsola, V. Kataja, and P. Sillanpaa, Breast Cancer Res. (2005), Vol. 7, No. 6, pp. 987–997.

    Article  Google Scholar 

  25. C. Kiyohara, K. Takayama, and Y. Nakanishi, Lung Cancer (2006), Vol. 54, No. 3, pp. 267–283.

    Article  Google Scholar 

  26. M. F. Lopez-Cima, P. Gonzfllez-Arriaga, and L. Garcia-Castro, BMC Cancer (2007), Vol. 7, No. 162, pp. 1–12.

    Google Scholar 

  27. J. Schneider, V. Classen, and S. Helmig, Expert.Rev. Mol. Diagn. (2008), Vol. 8, No. 6, pp. 761–780.

    Article  Google Scholar 

  28. J. Wang, Y. Zhao, and J. Jiang, J. Cancer Res. Clin. Oncol. (2010), Vol. 136, No. 10, pp. 1517–1525.

    Article  Google Scholar 

  29. A. S. Andrew, M. R. Karagas, and H. H. Nelson, Hum. Hered, (2008), Vol. 65, No. 2, pp. 105–108.

    Article  Google Scholar 

  30. M. Saadat, N. Pakyari, and H. Farrashbandi, Psychiatry Res. (2008), Vol. 157, No. 1–3, pp. 241–245.

    Article  Google Scholar 

  31. L.J. Martin, J. Neuropathol. Exp. Neurol. (2008), Vol. 67, No. 5, pp. 377–387.

    Article  Google Scholar 

  32. A. D. Joshi, R. Corral, and K. D. Siegmund, Carcinogenesis (2009), Vol. 30, No. 3, pp. 472–479.

    Article  Google Scholar 

  33. X. D. Long, Y. Ma, and Y. F. Zhou, BMC Cancer (2009), Vol. 9, No. 400, pp. 1–9.

    Google Scholar 

  34. W. Gao, M. Romkes, and S. Zhong, Oncol.Rep. (2010), Vol. 24, No. 1, pp. 257–262.

    Google Scholar 

  35. L. Jiao, M. M. Hassan, and M. L. Bondy, Cancer Lett. (2007), Vol. 245, No. 1–2, pp. 61–68.

    Article  Google Scholar 

  36. C. Z. Zhang, Z. P. Chen, and C. Q. Xu, Chinese J. Cancer (2009), Vol. 28, No. 11, pp. 1163–1167.

    Google Scholar 

  37. F. Coppede and L. Migliore, Curr.Alzheimer Res. (2009), Vol. 6, No. 1, pp. 36–47.

    Article  Google Scholar 

  38. I. F. Zhimulev, General Genetics (Novosibirsk: Siberian University Press, 2006), pp. 478 [in Russian].

    Google Scholar 

  39. A. R. Lehmann, Genes. Dev. (2010), Vol. 15, No. 1, pp. 15–23.

    Article  Google Scholar 

  40. S. Girirajan, J. Genet. (2009), Vol. 88, No. 1, pp. 1–7.

    Article  Google Scholar 

  41. D. Patterson, Hum. Gen. (2009), Vol. 126, No. 1, pp. 195–214.

    Article  Google Scholar 

  42. T. Gulesserian, R. Seidl, and R. Hardmeier, J. Investig. Med. (2001), Vol. 49, No. 1, pp. 41–46.

    Article  Google Scholar 

  43. M. Sinha and C. L. Peterson, Epigenomics (2009), Vol. 1, No. 2, pp. 371–385.

    Article  Google Scholar 

  44. W. B. Zigman and I. T. Lott, Ment. Retard. Dev. Disabil. Res. Rev. (2007), Vol. 13, No. 3, pp. 237–246.

    Article  Google Scholar 

  45. I. M. Vasil’ieva, J. M. Shagirova, and T. A. Sinel’schikova, Genetics (2009), Vol. 45, No. 6, pp. 753–757 [in Russian].

    Google Scholar 

  46. N. P. Bochkov, Medical Genetics (Moscow: Meditsina, 2004), pp. 224 [in Russian].

    Google Scholar 

  47. R. Sadakata, A. Hatamochi, and K. Kodama, Int. Med. (2010), Vol. 49, No. 16, pp. 1979–1800.

    Article  Google Scholar 

  48. M. A. Kournikova, O. E. Blinnikova, and G. R. Mutovin, Med. Genetics (2004), Vol. 3, No. 1, pp. 10–17 [in Russian].

    Google Scholar 

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Authors and Affiliations

  1. Burnazyan Federal Medical and Biophysical Center, Federal Biomedical Agency of Russia, Moscow, 123182, Russia

    Zh. M. Shagirova & L. V. Shulenina

  2. Filatov Hospital no. 13, Moscow, Russia

    L. A. Kurbatova

  3. Moscow Scientific Research Institute of Pediatrics and Pediatric Surgery, Ministry of Health of the Russian Federation, Moscow, Russia

    A. N. Semyachkina & V. F. Mikhailov

  4. Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia

    G. D. Zasukhina

Authors
  1. Zh. M. Shagirova
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  2. L. A. Kurbatova
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  3. L. V. Shulenina
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  4. A. N. Semyachkina
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  5. V. F. Mikhailov
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  6. G. D. Zasukhina
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Correspondence to Zh. M. Shagirova.

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Original Russian Text © Zh.M. Shagirova, L.A. Kurbatova, L.V. Shulenina, A.N. Semyachkina, V.F. Mikhailov, G.D. Zasukhina, 2011, published in Radiatsionnaya Biologiya. Radioekologiya, 2011, Vol. 51, No. 4, pp. 405–410.

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Shagirova, Z.M., Kurbatova, L.A., Shulenina, L.V. et al. The peculiarities of polymorphism of XPD and XRCC1 repair genes in cells of down and Ehlers-Danlo syndrome patients characterized by increased radiosensitivity. BIOPHYSICS 56, 950–954 (2011). https://doi.org/10.1134/S0006350911050198

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