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 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.
Wang
Tian-Li
TL
The Howard Hughes Medical Institute and The Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins University Medical Institutions, Baltimore, MD 21231, USA.
Maierhofer
Christine
C
Speicher
Michael R
MR
Lengauer
Christoph
C
Vogelstein
Bert
B
Kinzler
Kenneth W
KW
Velculescu
Victor E
VE
D000703:Analog-Digital Conversion; D019921:Biotinylation; D002874:Chromosome Mapping; D002877:Chromosomes, Human / Q000235:genetics; D015179:Colorectal Neoplasms / Q000235:genetics; D003198:Computer Simulation; D004262:DNA Restriction Enzymes; D004273:DNA, Neoplasm / Q000235:genetics; D004279:DNA, Viral / Q000032:analysis / Q000235:genetics; D018628:Gene Dosage; D005819:Genetic Markers; D004854:Herpesvirus 4, Human / Q000235:genetics; D006801:Humans; D007621:Karyotyping / Q000379:methods*; D008863:Microspheres; D009010:Monte Carlo Method; D012680:Sensitivity and Specificity; D019809:Streptavidin; D013698:Templates, Genetic; D014407:Tumor Cells, Cultured
D004273:DNA, Neoplasm; D004279:DNA, Viral; D005819:Genetic Markers; D019809:Streptavidin; D004262:DNA Restriction Enzymes