Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2003 Oct;16(4):379-83.
doi: 10.1080/08998280.2003.11927931.

Diagnostic molecular pathology: current techniques and clinical applications, part I

George J Netto  1 , Rana D Saad, Peter A Dysert 2nd
Affiliations

Diagnostic molecular pathology: current techniques and clinical applications, part I

George J Netto et al. Proc (Bayl Univ Med Cent). 2003 Oct.
No abstract available

PubMed Disclaimer

Figures

Figure 1
Figure 1
Steps involved in a genetic approach to the diagnosis and treatment of disease. Reprinted with playing an integral role in the application of permission from reference .
Figure 2
Figure 2
Basic steps of a PCR/reverse transcriptase PCR reaction. Each cycle involves 3 steps: denaturing, annealing, and polymerization. During denaturing, the 2 strands of the helix of the target genetic material are unwound and separated by heating. During annealing, or hybridization, oligonucleotide primers bind to their complementary bases on the single-stranded DNA. Finally, during polymerization, the polymerase enzyme reads the template strand and matches it with the appropriate nucleotides, resulting in 2 new identical helixes. After 30 to 40 cycles, millions of identical copies of the original DNA sequence are generated.
Figure 3
Figure 3
Capillary electrophoresis analysis of a PCR product using a sequencer for fragment analysis (ABI3100). A distinct peak indicates a positive amplification.
Figure 4
Figure 4
Amplification curve generated by the iCycler real-time PCR instrument. Fluorescence intensity is plotted against cycle number, showing the cycle numbers (threshold) at which the exponential increase in fluorescence occurs in each sample. A sample with a larger number of copies of the original target DNA sequence (top line) will reach the exponential increase at an earlier cycle (cycle 16).
Figure 5
Figure 5
Fluorescent in situ hybridization probes: (a) chromosome 17 painting probe; (b) chromosome 17 centromeric probe (blue) and HER2/neu allele-specific probe; (c) chromosome 9 and chromosome 22 BCR-ABL allele-specific probes.
Figure 6
Figure 6
(a) Fluorescent in situ hybridization analysis for chromosomal translocation (9;22) (q34;q11.2), BCR-ABL. (b) A photomicrograph taken through a fluorescence microscope depicting (top) a normal nucleus with 2 green and 2 red signals and (bottom) a nucleus from a chronic myelogenous leukemia cell with 2 novel yellow signals, indicating a translocation. Figure 6b reprinted from reference . Copyright American Society of Hematology; used with permission.
Figure 7
Figure 7
Spectral karyotype imaging. Diagrammatic illustration of computerized signal manipulation used to visualize slight variations in light spectra among different chromosomes. The 6 chromosomes depicted in the insets would have been indistinguishable by the naked eye. With the use of interferometer technology, they are identified as 3 different chromosomal pairs; each pair is assigned a different classification color and is identified accordingly. Reprinted with permission from reference . © 1996 AAAS (http://www.sciencemag.org). Permission from AAAS is required for all other uses.
Figure 8
Figure 8
Spectral karyotype imaging: (a) display colors, (b) classification colors, and (c) final karyotype with all 24 chromosomes pair-matched and arranged in numerical order. Reprinted with permission from reference . (c) © 1996 AAAS (http://www.sciencemag.org). Permission from AAAS is required for all other uses.
Figure 9
Figure 9
Spectral karyotype imaging: (a) Translocation (1;11) can easily be detected with the transposition of colored segments among chromosomes 1 (yellow) and 8 (blue). (b) Complex marker chromosomes occurring in breast carcinoma. Reprinted with permission from reference . © 1996 AAAS (http://www.sciencemag.org). Permission from AAAS is required for all other uses.
Figure 10
Figure 10
Steps involved in DNA microarray analysis. Each square on the glass slide contains 1200 cDNA loci for a total of 4800 in this example. Adapted with permission from Perkin-Elmer Life and Analytical Sciences.
Figure 11
Figure 11
(a) A computerized DNA microarray reader displays fluorescence intensities at the different cDNA intercept locations. In this example, the gene indicated by the yellow arrow is markedly overexpressed in comparison to the genes in blue. (b) Variations in gene expression help identify patterns that may predict prognosis and treatment outcome. The red box indicates a group of genes related to a specific functional pathway. Reprinted with permission from Perkin-Elmer Life and Analytical Sciences.
See this image and copyright information in PMC

References

    1. Collins FS, McKusick VA. Implications of the human genome project for medical science. JAMA. 2001;285:540–544. - PubMed
    1. O'Dwyer ME, Druker BJ. STI571: an inhibitor of the BCR-ABL tyrosine kinase for the treatment of chronic myelogenous leukaemia. Lancet Oncol. 2000;1:207–211. - PubMed
    1. Lin RJ, Egan DA, Evans RM. Molecular genetics of acute promyelocytic leukemia. Trends Genet. 1999;15:179–184. - PubMed
    1. Diverio D, Rossi V, Avvisati G, de Santis S, Pistilli A, Pane F, Saglio G, Martinelli G, Petti MC, Santoro A, Pelicci PG, Mandelli F, Biondi A, Lo Coco F. Early detection of relapse by prospective reverse transcriptase-polymerase chain reaction analysis of the PML/RAR fusion gene in patients with acute promyelocytic leukemia enrolled in the GIMEMA-AIEOP multicenter “AIDA” trial. Blood. 1998;92:784–789. - PubMed
    1. Cazzaniga G, d'Aniello E, Corral L, Biondi A. Results of minimal residual disease (MRD) evaluation and MRD-based treatment stratification in childhood ALL. Best Pract Res Clin Haematol. 2002;15:623–638. - PubMed

LinkOut - more resources