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Molecular Biology

, Volume 34, Issue 4, pp 554–560 | Cite as

Genomic imprinting and human hereditary disorders

  • M. V. Nemtsova
Article
  • 30 Downloads

Abstract

Modern data are reviewed that concern hereditary disorders caused by abnormal expression of imprinted genes rather than mutations and structural aberrations. As an example, the molecular organization of the critical chromosomal region 15(q11.2–q13) and the possible pathogenetic mechanisms are described in detail for Prader-Willi and Angelman syndromes.

Key words

genomic imprinting DNA methylation imprinting center uniparental disomy gene expression/inactivation Prader-Willi syndrome Angelman syndrome 

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Copyright information

© MAIK “Nauka/Interperiodica” 2000

Authors and Affiliations

  1. 1.Research Center for Medical GeneticsRussian Academy of Medical SciencesMoscowRussia

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