Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics.
Nigel P. Carter,Malcolm A. Ferguson-Smith,M T Perryman,H Telenius,A H Pelmear,M A Leversha,M T Glancy,S L Wood,K Cook,H M Dyson +9 more
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TLDR
In this article, a reverse chromosome painting method is proposed to detect chromosome duplications in short-term blood culture preparations or cell lines by using bivariate flow karyotype analysis.Abstract:
We describe a method, termed reverse chromosome painting, which allows the rapid analysis of the content and breakpoints of aberrant chromosomes. The method involves the sorting of small numbers of the aberrant chromosome from short term blood culture preparations or cell lines by using bivariate flow karyotype analysis. The sorted chromosomes are amplified and biotin labelled enzymatically using a degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR), the product annealed to metaphase spreads from normal subjects, and hybridisation detected using fluorescence in situ hybridisation (FISH). We show the usefulness of this method for routine clinical cytogenetics by the analysis of cases involving an insertion, a deletion, a translocation, and two cases of a chromosome with additional material of unknown origin. The method has particular application for the rapid resolution of the origin of de novo unbalanced chromosome duplications.read more
Citations
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Journal ArticleDOI
Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer
Håkan Telenius,Nigel P. Carter,C. E. Bebb,M. Nordenskjold,Bruce A.J. Ponder,Alan Tunnacliffe +5 more
TL;DR: DOP-PCR represents a rapid, efficient, and species-independent technique for general DNA amplification, and has advantages over interspersed repetitive sequence PCR (IRS- PCR), which relies on the appropriate positioning of species-specific repeat elements.
Journal ArticleDOI
The new cytogenetics: blurring the boundaries with molecular biology.
TL;DR: Cytogenetic analysis now extends beyond the simple description of the chromosomal status of a genome and allows the study of fundamental biological questions, such as the nature of inherited syndromes, the genomic changes that are involved in tumorigenesis and the three-dimensional organization of the human genome.
Journal ArticleDOI
First report on chicken genes and chromosomes 2000
Michael Schmid,Indrajit Nanda,Martina Guttenbach,Claus Steinlein,M Hoehn,Manfred Schartl,Thomas Haaf,Steffen Weigend,Ruedi Fries,Jean-Marie Buerstedde,Klaus Wimmers,David W. Burt,Jacqueline Smith,S A'Hara,Andy Law,Darren K. Griffin,Nat Bumstead,James C. Kaufman,Pippa Thomson,Terry Burke,Martien A. M. Groenen,Richard P. M. A. Crooijmans,Alain Vignal,Valerie Fillon,M. Morisson,Frédérique Pitel,Michèle Tixier-Boichard,K Ladjali-Mohammedi,Jossi Hillel,Asko Mäki-Tanila,Hans H. Cheng,Mary E. Delany,Joan Burnside,Shigeki Mizuno +33 more
Journal ArticleDOI
A map of the human immunoglobulin VH locus completed by analysis of the telomeric region of chromosome 14q
Graham P. Cook,Ian M. Tomlinson,Gerald Walter,Harold Riethman,Nigel P. Carter,L. Buluwela,Greg Winter,Terence H. Rabbitts +7 more
TL;DR: A map of the immunoglobulin VH locus which accounts for almost all VH segments known to rearrange in B-lymphocytes is completed, demonstrating the importance of combinatorial diversity produced by VDJ joining and the association of heavy and light chains in producing the human antibody repertoire.
Journal ArticleDOI
A comparative study of karyotypes of muntjacs by chromosome painting
TL;DR: The interspecific chromosomal homology was demonstrated by the use of both enhanced DAPI banding and comparative chromosome painting, providing direct molecular cytogenetic evidence for the tandem fusion theory of the chromosome evolution of muntjac species.
References
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Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.
Daniel Pinkel,J Landegent,Colin Collins,J.C. Fuscoe,Richard Segraves,J. N. Lucas,Joe W. Gray +6 more
TL;DR: Chromosomes can be specifically stained in metaphase spreads and interphase nuclei by in situ hybridization with entire chromosome-specific DNA libraries to inhibit the hybridization of sequences in the library that bind to multiple chromosomes.
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Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries
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Journal ArticleDOI
Cytogenetic analysis by chromosome painting using dop-pcr amplified flow-sorted chromosomes
Håkan Telenius,A H Pelmear,Alan Tunnacliffe,Nigel P. Carter,A. Behmel,Malcolm A. Ferguson-Smith,Magnus Nordenskjöld,Roswitha Pfragner,Bruce A.J. Ponder +8 more
TL;DR: This study shows that flow sorting of aberrant chromosomes and chromosome painting can be used as a rapid aid to cytogenetic analysis, particularly in cases of difficult karyotypes, such as tumours.
Journal ArticleDOI
Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes
TL;DR: Analysis of chromosome aberrations in two glioma cell lines using biotinylated DNA library probes indicates the power of these methods for pinpointing chromosome segments that are altered in specific types of tumors.
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Rapid detection of human chromosome 21 aberrations by in situ hybridization
Peter Lichter,Thomas Cremer,Chieh-Ju Chang Tang,Paul C. Watkins,Laura Manuelidis,David C. Ward +5 more
TL;DR: Results suggest that chromosome 21-specific probes may have utility in clinical diagnostics, especially by facilitating the direct analysis of interphase cells.