FISH-Based Assays for Detecting Genomic (Chromosomal) Mosaicism in Human Brain Cells

  • Yuri B. Yurov
  • Svetlana G. Vorsanova
  • Ilia V. Soloviev
  • Alexei M. Ratnikov
  • Ivan Y. IourovEmail author
Part of the Neuromethods book series (NM, volume 131)


Genomic or chromosomal mosaicism in human brain cells is considered a source for neuronal diversity and a mechanism for neuropsychiatric diseases. However, there is still a lack of consensus concerning the extent and effects of mosaic chromosome abnormalities (i.e., aneuploidy) in the normal and diseased human brain. To solve this problem, a need for detailed description of single-cell techniques for chromosomal analysis of human brain cells appears to exist. In this chapter, FISH-based techniques for detecting genomic (chromosomal) mosaicism in the human brain are described.

Key words

Human brain Chromosomal mosaicism Chromosome Aneuploidy Fluorescence in situ hybridization Single cell Molecular cytogenetics 



Professor YB Yurov is supported by a grant from the Russian Science Foundation (project #14-35-00060) at Moscow State University of Psychology and Education. Professors SG Vorsanova and IY Iourov are supported by a grant from the Russian Science Foundation (project #14-15-00411) at Mental Health Research Center. The study of the Alzheimer disease brain is supported by the ERA.Net RUS Plus program.


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Copyright information

© Springer Science+Business Media LLC 2017

Authors and Affiliations

  • Yuri B. Yurov
    • 1
    • 2
    • 3
  • Svetlana G. Vorsanova
    • 1
    • 2
    • 3
  • Ilia V. Soloviev
    • 1
  • Alexei M. Ratnikov
    • 1
    • 3
  • Ivan Y. Iourov
    • 1
    • 2
    • 4
    Email author
  1. 1.Mental Health Research CenterMoscowRussia
  2. 2.N.I. Pirogov Russian National Research Medical University, Academician Yu.E. Veltishchev Research Clinical Institute of Pediatrics, Ministry of Health of the Russian FederationMoscowRussia
  3. 3.Moscow State University of Psychology and EducationMoscowRussia
  4. 4.Department of Medical GeneticsRussian Medical Academy of Postgraduate EducationMoscowRussia

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