
EVIDENCE FOR LARGE SCALE CHROMOSOMAL
VARIATIONS IN NEURONAL CELLS OF THE
FETAL HUMAN BRAIN
Yurov YB1,*, Vostrikov VS1, Monakhov VV1, Iourov IY1, Vorsanova SG2,* *Corresponding Author: Professor Yuri B. Yurov and Professor Svetlana G. Vorsanova, Cytogenetic Labora¬tory; National Center of Mental Health, Russian Academy of Medical Sciences, Zagorodnoe shosse 2, Moscow 113 152, Russia; Tel.: +7-095-952-89-90; Fax: 7-095-952-89-40; E-mail: y_yurov@hotmail.com; y_yurov@ yahoo.com page: 95
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INTRODUCTION
The human brain contains about 1012 neurons, each forming as many as 1,000 connections with other neurons [1]. The brain also contains an enormous amount of glial (neuroglial) cells, which occupy the spaces between neurons and modulate their functions. Indirect evidences for some forms of somatic genomic and chromosomal alterations have been obtained [2]. Precedent exists for aneuploidies during early mammalian development which were thought to result in cell death [3,4]. Visualization of metaphase chromosomes by a nuclear transfer technique in mouse cortical neurons has indicated that the majority of them have an abnormal karyotype [5]. Direct fluorescent in situ hybridization (FISH) and spectral karyotype analysis of neurons in the developing and adult nervous system of mouse embryonic cerebral cortical neuroblasts have been performed, and have identified more than 30% of neuroblasts to be aneuploid [2]. Therefore, it is possible that genomes in developing and adult neurons can be different at the level of whole chromosomes. However, up-to-date studies of interphase chromosome complement in non dividing neuronal cells in the human fetal brain have not been carried out. There is only one indication published in abstract form [6] that the fetal human brain could contain a large proportion of chromosomally abnormal cells. Taking into account the data that large-scale genomic variations, due to chromosomal complement instability in developing neuronal cells, could have a substantial effect on normal brain development and functions, direct studies of chromosomal complement in the human brain are of great significance. The main aim of the present study was the analysis of chromosomal complement in the neuronal cells of the developing brain using a modern molecular-cytogenetic technique: interphase multicolor fluorescent in situ hybridization (mFISH).
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