scholarly journals Generation of a whole chromosome painting probe from monochromosomal hybrid cells by the alu-polymerase chain reaction

2007 ◽  
Vol 59 (2) ◽  
pp. 89-95 ◽  
Author(s):  
Danijela Drakulic ◽  
Gordana Nikcevic ◽  
Vesna Djordjevic ◽  
Milena Stevanovic
Keyword(s):  
Chromosome Painting ◽  
Fluorescent In Situ Hybridization ◽  
Chromosomal Rearrangements ◽  
Painting Probe ◽  
Complex Chromosomal Rearrangements ◽  
Pcr Method ◽  
Polymerase Chain ◽  
Complex Chromosome ◽  
Whole Chromosome Painting

Fluorescent in situ hybridization (FISH) has become a widespread technique applicable in basic science and diagnostics. Chromosome painting represents a special application of FISH that has found increasing use in identification of complex chromosome rearrangements. Here we present a version of the Alu-PCR method modified to generate a whole chromosome painting probe (WCP) for human chromosome 19 using monochromosomal cell hybrids. In setting up conditions for this method, we established a cheap and fast approach to generation of WCPs for other human chromosomes that could be particularly useful for unambiguous identification of complex chromosomal rearrangements associated with cancer. .

Detection of equine X chromosome mosaicism in a mare using an equine X whole chromosome painting probe (WCPP) — A case report

2007 ◽  
Vol 55 (2) ◽  
pp. 207-212 ◽  
Author(s):  
Monika Bugno ◽  
Ewa Słota ◽  
Aldona Pieńkowska-Schelling ◽  
C. Schelling
Keyword(s):  
Case Report ◽  
X Chromosome ◽  
Blood Lymphocyte ◽  
Chromosome Painting ◽  
Lymphocyte Culture ◽  
Painting Probe ◽  
Karyotype Formula ◽  
Mosaic Form ◽  
Whole Chromosome Painting

An infertile mare with hypoplastic ovaries was subjected to cytogenetic analysis. Fluorescence in situ hybridisation (FISH) using the equine X whole chromosome painting probe (WCPP) was carried out on a chromosome preparation obtained from blood lymphocyte culture. The number of analysed spreads was high (235) and in the X chromosome aneuploidy in mosaic form was diagnosed. The karyotype formula was 63,X / 64,XX / 65,XXX. The ratio of the three lines was 15%, 82% and 3%, respectively. The application of the FISH technique with WCPP is discussed.

scholarly journals Cytogenetic and molecular analysis in Philadelphia negative CML

Blood ◽  
1989 ◽  
Vol 73 (4) ◽  
pp. 1038-1044 ◽  
Author(s):  
DC van der Plas ◽  
AB Hermans ◽  
D Soekarman ◽  
EM Smit ◽  
A de Klein ◽  
...  
Keyword(s):  
Myeloid Leukemia ◽  
Fusion Gene ◽  
Chromosomal Rearrangements ◽  
Normal Karyotype ◽  
Break Point ◽  
Complex Chromosomal Rearrangements ◽  
Ph Chromosome ◽  
Polymerase Chain ◽  
Genomic Recombination

Abstract We studied the clinical, hematologic, cytogenetic and molecular biologic features in four patients with Philadelphia (Ph) negative chronic myeloid leukemia (CML). In all four cases the clinical and hematologic characteristics were indistinguishable from Ph positive CML. Cytogenetic analysis showed a normal karyotype in two patients and chromosomal translocations apparently not affecting chromosome 22 in the other two cases. Southern blot analysis using probes of the bcr region, demonstrated a bcr break-point in all four patients. In situ hybridization with bcr, c-abl, and c-sis probes showed unusual hybridization sites for 5′-bcr and c-abl indicating complex chromosomal rearrangements affecting three different chromosomes in the four patients investigated. Using polymerase chain reaction (PCR) followed by hybridization to oligonucleotide probes specific for the bcr-abl fusion region, the expression of a chimeric bcr-abl mRNA was detected. In these patients we demonstrated that (a) CML with a breakpoint in the bcr region without cytogenetically detectable Ph chromosome is characterized by the same genomic recombination of 5′-bcr and c-abl as CML with standard Ph translocation and (b) unusual localization of 5′- bcr and c-abl sequences caused by complex Ph translocation does not interfere with transcription of the bcr-abl fusion gene.

scholarly journals Cytogenetic and molecular analysis in Philadelphia negative CML

Blood ◽  
1989 ◽  
Vol 73 (4) ◽  
pp. 1038-1044 ◽  
Author(s):  
DC van der Plas ◽  
AB Hermans ◽  
D Soekarman ◽  
EM Smit ◽  
A de Klein ◽  
...  
Keyword(s):  
Myeloid Leukemia ◽  
Fusion Gene ◽  
Chromosomal Rearrangements ◽  
Normal Karyotype ◽  
Break Point ◽  
Complex Chromosomal Rearrangements ◽  
Ph Chromosome ◽  
Polymerase Chain ◽  
Genomic Recombination

We studied the clinical, hematologic, cytogenetic and molecular biologic features in four patients with Philadelphia (Ph) negative chronic myeloid leukemia (CML). In all four cases the clinical and hematologic characteristics were indistinguishable from Ph positive CML. Cytogenetic analysis showed a normal karyotype in two patients and chromosomal translocations apparently not affecting chromosome 22 in the other two cases. Southern blot analysis using probes of the bcr region, demonstrated a bcr break-point in all four patients. In situ hybridization with bcr, c-abl, and c-sis probes showed unusual hybridization sites for 5′-bcr and c-abl indicating complex chromosomal rearrangements affecting three different chromosomes in the four patients investigated. Using polymerase chain reaction (PCR) followed by hybridization to oligonucleotide probes specific for the bcr-abl fusion region, the expression of a chimeric bcr-abl mRNA was detected. In these patients we demonstrated that (a) CML with a breakpoint in the bcr region without cytogenetically detectable Ph chromosome is characterized by the same genomic recombination of 5′-bcr and c-abl as CML with standard Ph translocation and (b) unusual localization of 5′- bcr and c-abl sequences caused by complex Ph translocation does not interfere with transcription of the bcr-abl fusion gene.

Complex Chromosomal Rearrangements

2018 ◽  
Author(s):  
R. J McKinlay Gardner ◽  
David J Amor
Keyword(s):  
De Novo ◽  
Chromosomal Rearrangements ◽  
Chromosome Rearrangements ◽  
Type I ◽  
Complex Type ◽  
Reproductive Risk ◽  
Clinically Normal ◽  
Complex Chromosomal Rearrangements ◽  
Very High ◽  
Complex Chromosome

Complex chromosome rearrangements (CCRs) include most of the rearrangements that would not be accounted for as “straightforward” classical categories. They may be translocations with three or more segments involved; or they may comprise a mix of translocation and, for example, inversion. Some can be extraordinarily complex. CCRs are classified as types I–IV, most falling into the “least complex” type I category, while types II–IV are grouped as “exceptional CCRs.” Many unbalanced CCRs have arisen de novo and imply no increased reproductive risk. The identification of the clinically normal balanced CCR carrier is less frequent, and for these people, the reproductive risks can be very high.

Sign in / Sign up

Export Citation Format

Share Document