Digital Karyotyping

Alterations in the genetic content of a cell are the underlying cause of many human diseases, including cancers. We have developed a method, called digital karyotyping, that provides quantitative analysis of DNA copy number at high resolution. This approach involves the isolation and enumeration of...

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Bibliographic Details
Published inProceedings of the National Academy of Sciences - PNAS Vol. 99; no. 25; pp. 16156 - 16161
Main Authors Wang, Tian-Li, Maierhofer, Christine, Speicher, Michael R., Lengauer, Christoph, Vogelstein, Bert, Kinzler, Kenneth W., Velculescu, Victor E.
Format Journal Article
LanguageEnglish
Published United States National Academy of Sciences 10.12.2002
National Acad Sciences
Subjects
Analog-Digital Conversion
Analysis
Biological Sciences
Biotinylation
Cell lines
Cells
Chromosome Mapping
Chromosomes
Chromosomes, Human - genetics
Colorectal Neoplasms - genetics
Comparative genomic hybridization
Computer Simulation
Deoxyribonucleic acid
DNA
DNA Restriction Enzymes
DNA, Neoplasm - genetics
DNA, Viral - analysis
DNA, Viral - genetics
Enzymes
Gene Dosage
Genetic Markers
Genetics
Genomes
Genomics
Herpesvirus 4, Human - genetics
Humans
Karyotype
Karyotyping
Karyotyping - methods
Microspheres
Monte Carlo Method
Polymerase chain reaction
Sensitivity and Specificity
Streptavidin
Templates, Genetic
Tumor Cells, Cultured
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Summary:Alterations in the genetic content of a cell are the underlying cause of many human diseases, including cancers. We have developed a method, called digital karyotyping, that provides quantitative analysis of DNA copy number at high resolution. This approach involves the isolation and enumeration of short sequence tags from specific genomic loci. Analysis of human cancer cells by using this method identified gross chromosomal changes as well as amplifications and deletions, including regions not previously known to be altered. Foreign DNA sequences not present in the normal human genome could also be readily identified. Digital karyotyping provides a broadly applicable means for systematic detection of DNA copy number changes on a genomic scale.
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To whom correspondence should be addressed at: The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, 1650 Orleans Street, Room 5M05, Baltimore, MD 21231-1001. E-mail: velculescu@jhmi.edu.
Contributed by Bert Vogelstein
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.202610899