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

RESULTS

The mFISH studies allowed multicolor detection of numerous targets in interphase nuclei of non dividing neu­ronal cells, obtained from the fetal brain (Fig. 1). The technique applied in the present study provides accurate identification of individual chromosomes with application of the original collection of DNA probes, and to success in investigating the chromosomal variations in the fetal hu­man brain. Interphase FISH signal scoring was performed using 1,000 nuclei per sample of the fetal brain. The fre­quencies of aneuploidies involving different chromosomes (numbers of chromosomal aneuploidies per nuclei in per­cent) were determined. The results are present in Table 1. There is high variability in the frequencies of aneuploidies between samples of fetal brains and different chromo­somes in individual brains. The frequencies of chromo­somally abnormal nuclei (nullesomy, monosomy, trysomy and tetrasomy) varied from 0.2 to 15.6% for different chromosomes. We have not found any specific aneuploi­dies characteristic for individual fetal brain samples. The spectrum of aneuploidies was non specific: different nuclei usually have one or very rarely two (or more) chromo­somal simultaneous abnormalities. The mean frequencies of aneuploidies determined for 10 samples of fetal brain are 5% for chromosome 1; 3.7% for chromosomes 13 and 21; 1.8% for chromosome 18; 5.8% for chromosome X and 5.7% for chromosome Y. More common aneuploidies were associated with aberrations involving sex chromo­somes and chromosome 1. The sum of the frequencies of aneuplodies (or mean cumulative frequency) involving chromosomes 1, 13, 18, 21, X and Y was 22%.

 

 

Figure 1. Examples of interphase FISH in fetal human brain. (a) Three red signals with chromosomes 13/21- specific probe (monosomy 13 or 21) and one green signal with chromosome X-specific probe (female); (b) upper: two red signals with chromosome Y-specific probe (di­somy Y) and one green signal with chromosome X-specific probe, bottom: two nuclei with one red signal with chro­mosomes Y-specific probe and one green signal with chro­mosome X-specific probe; (c) three green signals with chromosome 1-specific probe (trysomy 1) and four red signals with chromosomes 13- and 21-specific probes, (d) three green signals with chromosome 18-specific probe (trisomy 18) and one red signal with chromosome Y-spe­cific probe.




Number 27
VOL. 27 (2), 2024
Number 27
VOL. 27 (1), 2024
Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006