CHROMOSOME TORSIONS IN CYTOGENETIC PREPARATIONS OF BONE MARROW – ARTIFACTS OR LEUKEMIA-SPECIFIC?
Glaser M1, Karst C1, Gross M1, Hasmik M2, Liehr T1,*
*Corresponding Author: Dr. Thomas Liehr, Institut für Humangenetik und Anthroplogie, Postfach, D-07740 Jena, Germany; Tel.: +49-3641-935533; Fax: +49-3641-935582; Email: i8lith@mti.uni-jena.de
page: 27

MATERIALS AND METHODS

Patients. Specimens of bone marrow, peripheral blood, skin fibroblasts, amniocytes and chorionic villi (CV) from 42 patients were studied. Bone marrow aspi­rates of eight patients with AML-M6, one each of persons suffering from AML-M1, AML-M4, AML-M5b and AML developing from myelodysplastic syndrome (MDS), two with AML-M2, and four with different, non malignant bone marrow diseases (leukopenia of unclear origin, auto­immune disease, neutropenia, toxic bone marrow impair­ment or thrombocytopenia and anemia) were studied. Seven bone marrow aspirates from patients with rheuma­toid arthritis were also included. All these specimens were cultivated in the presence of colcemid for 24 hours [6]. Seventy-two-hour cultures of six peripheral blood samples, three skin fibroblast, three amniocyte and one CV sample and four 24-hour cultures of different AML-cases and one 48-hour culture of AML case 38 (without permanent add­ing of colcemid) were used as controls (for further details see Table 1).


Cytogenetic and Molecular Cytogenetic. Banding analyses of chromosomes from peripheral blood was done according to standard procedures [7]. The search for cryp­tic chromosomal changes was done by mMCB [5]. To study the torsion anomaly in more detail, two-color fluo­rescence in situ hybridization (FISH) studies [8] using probes for 1p and 1q, 9p and 9q or 16p and 16q [9] were carried out (see Figs. 2 and 3).

 

Figure 1. Partial mMCB results by which the torsion phenomenon was detected in case 4: a) overlay of three-color channels (DAPI, TexasRed, FITC); b) pseudo color depiction of a chromosome 1 pair, that on the right shows the torsion; c) single chromosome 1 with a torsion depicted in pseudo colors, inverted DAPI, and the five-color channels: FITC, SpectrumOrange, TexasRed, Cya­nine 5 and Diethylaminocoumarine.

 

 

 

 

 

Figure 2. Pairs of chromosomes 1, 9 and 16. For the examples presented for chromosomes 1 and 16, those on the right show the chromosome torsion. In the example for chromosome 9, both chromosomes have a torsion.

 

 

 

 

Figure 3. Schematic drawing of the torsion anomaly for chromosome 1.

 

 




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