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Выпуск 58

БИОЛОГИЧЕСКИЕ НАУКИ

УДК: 575.1

СТРУКТУРНЫЕ ВАРИАЦИИ ГЕНОМА У УМСТВЕННО ОТСТАЛЫХ БОЛЬНЫХ

ОМАРОВА Джамиля Камильевна,
ГУРГЕНОВА Фарида Руслановна,
МАКСИМОВА Татьяна Николаевна,
БУЛАЕВА Казима Багдадовна,
БУЛАЕВ Олег Александрович


Обнаружены статистически значимые (p ≤ 0.05) пики сцеплений (LOD) в 10 геномных регионах: 1q41, 2p25.3-p24.2, 3p13-p12.1, 4q13.3, 10p11, 11q23, 12q24.22-q24.31, 17q24.2-q25.1, 21q22.13 и 22q12.3-q13.1. Анализы сцеплений и структурных геномных вариаций в удаленных высокогорных генетических изолятах с агрегацией умственной отсталости по- казали, что даже в высокоизолированной популяции с большой частотой родственных браков, геномные механизмы патогенеза умственной отсталости являются сложными и носят олиго- или полигенный характер.

Ключевые слова: умственная отсталость; генетический изолят; полногеномный анализ сцеплений; STRs, SNPs, CNV, ROH; intellectual disability; genetic isolate; genome-wide linkage scan; STRs - SNPs - CNV - ROH.

Страницы: 38 - 48

Поступила в редакцию: 12.03.2015 г.

Список литературы:

  • Roeleveld N., Zielhuis G.A., Gabreeђls F. The prevalence of mental retardation: a critical review of recent literature // Dev Med Child Neurol. 1997. N 39(2). P. 125-132.
  • Reported biomedical causes and associated medical conditions for mental retardation among 10-year-old children, metropolitan Atlanta, 1985 to 1987 / M. Yeargin-Allsopp, C.C. Murphy, J.F. Cordero, Ђ.P. Decoufle, J.G. Hollowell // Dev Med Child Neurol. 1997. N 39(3). P. 142-149.
  • Kaufman L., Ayub M., Vincent J.B. The genetic basis of nonsyndromic intellectual disability: a review //J. Neurodev Disord. 2010. N 2(4). P. 182-209.
  • Deep sequencing reveals 50 novel genes for recessive cognitive disorders / H. Najmabadi, H. Hu, M. Garshasbi, T. Zemojtel, S.S. Abedini et al. // Nature. 2011. N 7367. P. 57-63.
  • Navigation-related structural change in the hippocampi of taxi drivers / E.A. Maguire, D.G. Gadian, I.S. Johnsrude, C.D. Good, J. Ashburner, R.S. Frackowiak, C.D. Fritht // Proc Natl Acad Sci USA. 2000. N 97. P. 4398-4403.
  • Burgess N., Maguire E.A., O’Keefe J. The human hippocampus and spatial and episodic memory // Neuron. 2002. N 35. P. 625-641.
  • Adult hippocampal neurogenesis buffers stress responses and depressive behaviour / J.S. Snyder, A. Soumier, M. Brewer, J. Pickel, H.A. Cameron // Nature. 2011. N 476. P. 458-461.
  • Total brain volume and corpus callosum size in medication-naive adolescents and young adults with autism spectrum disorder / C.M. Freitag, E. Luders, H.E. Hulst, K.L. Narr, P.M. Thompson, A.W. Toga, С. Krick, С. Konrad // Biol Psychiatry. 2009. N 66. P. 316-319.
  • Steps to standardization and validation of hippocampal volumetry as a biomarker in clinical trials and diagnostic criterion for Alzheimer’s disease / C.R. Jr. Jack, F. Barkhof, M.A. Bernstein, M. Cantillon, P.E. Cole, C. Decarli, B. Dubois, S. Duchesne, N.C. Fox, G.B. Frisoni, H. Hampel, D.L. Hill, K. Johnson, J.F. Mangin, P. Scheltens, A.J. Schwarz, R. Sperling, J. Suhy, P.M. Thompson, M. Weiner, N.L. Foster // Alzheimers Dement. 2011. N 7(4). P. 474-485.
  • Volume and number of neurons of the human hippocampal formation in normal aging and Alzheimer’s disease / G. Simic, I. Kostovic, B. Winblad, N. Bogdanovic // J. Comp Neurol. 1997. N 379. P. 482-494.
  • Mapping genes of complex psychiatric diseases in Daghestan genetic isolates / K.B. Bulayeva, S.M. Leal, T.A. Pavlova, R.M. Kurbanov, S.J. Glatt, O.A. Bulayev et al. // Am J. Med Genet B Neuropsychiatr Genet. 2005. N 132B(1). P. 76-84.
  • The ascertainment of schizophrenia pedigrees in Dagestan genetic isolates / K.B. Bulayeva, S. Leal, T.A. Pavlova, R.M. Kurbanov, S. Coover, O.A. Bulayev, W. Byerley // Psychiatr Genet. 2000. N 10(2). P. 67-72.
  • Diagnostic interview for genetic studies: rationale, unique features and training / J. Nurnberger, M. Blehar, C. Kaufman, C. York-Cooler, S. Simpson, J. Harkavy-Friedman et al. // Arch Gen Psychiatry. 1994. N 51. P. 849-862.
  • Sobel E., Lange K. Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker sharing // Am J. Hum. Genet. 1996. N 58. P. 1323-1337.
  • Microduplications disrupting the MYT1L gene (2p25.3) are associated with schizophrenia / Y. Lee, A. Mattai, R. Long, J.L. Rapoport, N. Gogtay, A.M. Addington // Psychiatr Genet. 2012. N 22. P. 206-209.
  • Association study of myelin transcription factor 1-like polymorphisms with schizophrenia in Han Chinese population / W. Li, X. Wang, J. Zhao, J. Lin, X.Q. Song, Y. Yang et al. // Genes Brain Behav. 2012. N 11. P. 87-93.
  • MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions / S.J. Stevens, C.M. van Ravenswaaij-Arts, J.W. Janssen, J.S. Klein Wassink-Ruiter, A.J. van Essen, T. Dijkhuizen et al. // Am J. Med Genet. 2011. N 155A. P. 2739-2745.
  • Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies / K.P. Lesch, N. Timmesfeld, T.J. Renner, R. Halperin, C. Roђser, T.T. Nguyen, D.W. Craig, J. Romanos, M. Heine, J. Meyer, C. Freitag, A. Warnke, M. Romanos, H. Schaђfer, S. Walitza, A. Reif, D.A. Stephan, C. Jacob // J. Neural Transm. 2008. N 115. P. 1573-1585.
  • Genome-wide linkage scan of major depressive disorder in two Dagestan genetic isolates / K.B. Bulayeva, T. Lencz, S. Glatt, T. Takumi, F.R. Gurgenova, O.A. Bulayev // Cent Eur J. Med. 2011. N 6. P. 616-624.
  • Identification of common variants associated with human hippocampal and intracranial volumes / J.L. Stein, S.E. Medland, A.A. Vasquez, D.P. Hibar, R.E. Senstad // Nat Genet. 2012. N 44. P. 552-561.
  • The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data / P.M. Thompson, J.L. Stein, S.E. Medland, D.P. Hibar, A.A. Vasquez, M.E. Renteria, R. Toro et al. // Brain Imaging Behav. 2014. N 8(1). P. 153-182.
  • Common variants at 12q14 and 12q24 are associated with hippocampal volume / J.C. Bis, C. DeCarli, A.V. Smith, V. van der Lijn, F. Crivello, M. Fornage et al. // Nat Genet. 2012. N 44. P. 545-551.
  • Levay K., Slepak V.Z. Tescalcin is an essential factor in megakaryocytic differentiation associated with Ets family gene expression // J. Clin Invest. 2007. N 117. P. 2672-2683.
  • Levay K., Slepak V.Z. Up- or downregulation of tescalcin in HL-60 cells is associated with their differentiation to either granulocytic or macrophage-like lineage // Exp Cell Res. 2010. N 316. P. 1254-1262.
  • Stein J.L., Hibar D.P., Madsen S.K. et al. Discovery and replication of dopamine-related gene effects on caudate volume in young and elderly populations (N = 1198) using genome-wide search // Mol Psychiatry. 2011. N 16. P. 927-937.
  • Common variants at 6q22 and 17q21 are associated with intracranial volume / M.A. Ikram, M. Fornage, A.V. Smith, S. Seshadri, R. Schmidt et al. // Nat Genet. 2012. N 44. P. 539-544.

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