scholarly journals Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia

Blood ◽  
1996 ◽  
Vol 87 (9) ◽  
pp. 3579-3586 ◽  
Author(s):  
EJ Johnson ◽  
SW Scherer ◽  
L Osborne ◽  
LC Tsui ◽  
D Oscier ◽  
...  
Keyword(s):  
Myeloid Leukemia ◽  
Poor Prognosis ◽  
Yeast Artificial Chromosome ◽  
Chromosomal Rearrangements ◽  
Artificial Chromosome ◽  
Specific Gene ◽  
Chromosomal Anomalies ◽  
Inversion Breakpoint ◽  
Definition Of

Chromosome 7 translocations, deletions, or monosomy are associated with myelodysplasia (MDS) and acute myeloid leukemia both in children and adults. These chromosomal anomalies represent one of the most common cytogenetic abnormalities associated with these diseases and usually herald a poor prognosis. In this study two cosmid DNA probes that mapped to 7q22.1 and were known to be separated by approximately 500 kb were identified to flank the proximal inversion breakpoint in a patient carrying a constitutional inversion (7q22.1–34) associated with MDS. A yeast artificial chromosome (YAC) clone that encompassed the two cosmids was identified and shown to span the breakpoint. Fluorescence in situ hybridization was then used to analyze six additional patients with myelodysplasia and chromosomal rearrangements of the 7q22 region (three patients had translocations and three carried deletions). The breakpoint in one of the patients was found to be contained within the same YAC clone that spanned the inversion breakpoint. Moreover, this same interval was determined to be absent in all three patients with chromosomal deletions. These results suggest that this segment of DNA on chromosome 7q22.1 may contain specific gene(s) that have a significant role in myeloid malignancies.

scholarly journals Chromosomal localization of human genes for arylamine N-acetyltransferase

1994 ◽  
Vol 297 (3) ◽  
pp. 441-445 ◽  
Author(s):  
D Hickman ◽  
A Risch ◽  
V Buckle ◽  
N K Spurr ◽  
S J Jeremiah ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
In Situ Hybridization ◽  
Yeast Artificial Chromosome ◽  
Chromosomal Localization ◽  
Artificial Chromosome ◽  
Acetylator Phenotype ◽  
Chromosome 8 ◽  
Slow Acetylator ◽  
Human Genes

Arylamine N-acetyltransferase is encoded at two loci, AAC-1 and AAC-2, on human chromosome 8. The products of the two loci are able to catalyse N-acetylation of arylamine carcinogens, such as benzidine and other xenobiotics. AAC-2 is polymorphic and individuals carrying the slow-acetylator phenotype are more susceptible to benzidine-induced bladder cancer. We have identified yeast artificial chromosome clones encoding AAC-1 and AAC-2 and have used the cloned DNAs as fluorescent probes for in situ hybridization. The hybridization patterns allow assignment of AAC-1 and AAC-2 to chromosome 8p21.3-23.1, a region in which deletions have been associated with bladder cancer [Knowles, Shaw and Proctor (1993) Oncogene 8, 1357-1364].

scholarly journals Impact of Chromosomal Rearrangements on the Interpretation of Lupin Karyotype Evolution

Genes ◽  
2019 ◽  
Vol 10 (4) ◽  
pp. 259 ◽  
Author(s):  
Karolina Susek ◽  
Wojciech Bielski ◽  
Katarzyna B. Czyż ◽  
Robert Hasterok ◽  
Scott A. Jackson ◽  
...  
Keyword(s):  
Karyotype Evolution ◽  
Chromosomal Rearrangements ◽  
Chromosome Mapping ◽  
Artificial Chromosome ◽  
Basic Chromosome Number ◽  
Plant Genome ◽  
Old World ◽  
Whole Genome Duplications ◽  
Genome Duplications

Plant genome evolution can be very complex and challenging to describe, even within a genus. Mechanisms that underlie genome variation are complex and can include whole-genome duplications, gene duplication and/or loss, and, importantly, multiple chromosomal rearrangements. Lupins (Lupinus) diverged from other legumes approximately 60 mya. In contrast to New World lupins, Old World lupins show high variability not only for chromosome numbers (2n = 32–52), but also for the basic chromosome number (x = 5–9, 13) and genome size. The evolutionary basis that underlies the karyotype evolution in lupins remains unknown, as it has so far been impossible to identify individual chromosomes. To shed light on chromosome changes and evolution, we used comparative chromosome mapping among 11 Old World lupins, with Lupinus angustifolius as the reference species. We applied set of L. angustifolius-derived bacterial artificial chromosome clones for fluorescence in situ hybridization. We demonstrate that chromosome variations in the species analyzed might have arisen from multiple changes in chromosome structure and number. We hypothesize about lupin karyotype evolution through polyploidy and subsequent aneuploidy. Additionally, we have established a cytogenomic map of L. angustifolius along with chromosome markers that can be used for related species to further improve comparative studies of crops and wild lupins.

scholarly journals Detection of myc translocations in lymphoma cells by fluorescence in situ hybridization with yeast artificial chromosomes

Blood ◽  
1995 ◽  
Vol 85 (8) ◽  
pp. 2132-2138 ◽  
Author(s):  
ML Veronese ◽  
M Ohta ◽  
J Finan ◽  
PC Nowell ◽  
CM Croce
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Yeast Artificial Chromosome ◽  
Human Lymphocytes ◽  
Artificial Chromosome ◽  
Chromosome 8 ◽  
Metaphase Chromosomes ◽  
Artificial Chromosomes ◽  
Myc Gene

Translocations involving chromosome 8 at band q24 and one of the Ig loci on chromosomes 14q32, 22q11, and 2p11 are the hallmark of Burkitt's lymphoma (BL). It has been previously observed that the exact localization of the breakpoints at chromosome 8q24 can vary significantly from patient to patient, scattering over a distance of more than 300 kb upstream of c-myc and about 300 kb downstream of c-myc. To generate probes for fluorescence in situ hybridization (FISH) that detect most c-myc translocations, we screened a yeast artificial chromosome (YAC) library from normal human lymphocytes by colony hybridization, using three markers surrounding the c-myc gene as probes. We obtained 10 YAC clones ranging in size between 500 and 200 kb. Two nonchimeric clones were used for FISH on several BL cell lines and patient samples with different breakpoints at 8q24. Our results show that the YAC clones detected translocations scattered along approximately 200 kb in both metaphase chromosomes and interphase nuclei. The sensitivity, rapidity, and feasibility in nondividing cells render FISH an important diagnostic tool. Furthermore, the use of large DNA fragments such as YACs greatly simplifies the detection of translocations with widely scattered breakpoints such as these seen in BL.

scholarly journals Fluorescence In Situ Hybridization (FISH) on Human Chromosomes Using Photoprobe Biotin-labeled Probes

2003 ◽  
Vol 51 (4) ◽  
pp. 549-551 ◽  
Author(s):  
Anja Weise ◽  
Peter Harbarth ◽  
Uwe Claussen ◽  
Thomas Liehr
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Yeast Artificial Chromosome ◽  
Artificial Chromosome ◽  
Dna Probes ◽  
Human Chromosomes ◽  
First Time ◽  
Established Technique ◽  
Whole Chromosome Painting

Fluorescence in situ hybridization (FISH) on human chromosomes in meta-and interphase is a well-established technique in clinical and tumor cytogenetics and for studies of evolution and interphase architecture. Many different protocols for labeling the DNA probes used for FISH have been published. Here we describe for the first time the successful use of Photoprobe biotin-labeled DNA probes in FISH experiments. Yeast artificial chromosome (YAC) and whole chromosome painting (wcp) probes were tested.

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.

Yeast artificial chromosome mapping of the cystinosis locus on chromosome 17p by fluorescence in situ hybridization

1996 ◽  
Vol 98 (3) ◽  
pp. 321-322 ◽  
Author(s):  
Ingrid Stec ◽  
Ulrike Peters ◽  
Erik Harms ◽  
Michael R. Koehler ◽  
M. Schmid ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Yeast Artificial Chromosome ◽  
Chromosome Mapping ◽  
Artificial Chromosome

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.

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