Skip to main content Accessibility help
×
Hostname: page-component-848d4c4894-75dct Total loading time: 0 Render date: 2024-06-03T17:06:52.630Z Has data issue: false hasContentIssue false

Chapter 9 - Cytogenetic and molecular genetic testing

from Section II - Investigative techniques

Published online by Cambridge University Press:  13 April 2017

Ozgur Mete
Affiliation:
University of Toronto
Sylvia L. Asa
Affiliation:
University of Toronto
Get access
Type
Chapter
Information
Endocrine Pathology , pp. 261 - 270
Publisher: Cambridge University Press
Print publication year: 2000

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Okamoto, R, Ogawa, S, Nowak, D, Kawamata, N, Akagi, T, Kato, M, Sanada, M, Weiss, T, Haferlach, C, Dugas, M, Ruckert, C, Haferlach, T, Koeffler, HP. Genomic profiling of adult acute lymphoblastic leukemia by single nucleotide polymorphism oligonucleotide microarray and comparison to pediatric acute lymphoblastic leukemia. Haematologica 2010;95:14811488.Google Scholar
Schultz, RA, Delioukina, M, Bedell, V, Smith, DD, Forman, SJ, McDaniel, LD, Ballif, BC, Shaffer, LG, Slovak, ML. Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis. Mol Cytogenet 2011;4:4.Google Scholar
Slovak, ML, Bedell, V, Hsu, YH, Estrine, DB, Nowak, NJ, Delioukina, ML, Weiss, LM, Smith, DD, Forman, SJ. Molecular karyotypes of Hodgkin and Reed–Sternberg cells at disease onset reveal distinct copy number alterations in chemosensitive vs. refractory Hodgkin lymphoma. Clin Cancer Res 2011;17:34433454.CrossRefGoogle ScholarPubMed
Walter, MJ, Payton, JE, Ries, RE, Shannon, WD, Deshmukh, H, Zhao, Y, Baty, J, Heath, S, Westervelt, P, Watson, MA, Tomasson, MH, Nagarajan, R, O'Gara, BP, Bloomfield, CD, Mrozek, K, Selzer, RR, Richmond, TA, Kitzman, J, Geoghegan, J, Eis, PS, Maupin, R, Fulton, RS, McLellan, M, Wilson, RK, Mardis, ER, Link, DC, Graubert, TA, DiPersio, JF, Ley, TJ. Acquired copy number alterations in adult acute myeloid leukemia genomes. Proc Natl Acad Sci USA 2009;106:1295012955.Google Scholar
Pinkel, D, Segraves, R, Sudar, D, Clark, S, Poole, I, Kowbel, D, Collins, C, Kuo, WL, Chen, C, Zhai, Y, Dairkee, SH, Ljung, BM, Gray, JW, Alberston, DG. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998;20:207211.Google Scholar
Bejjani, BA, Shaffer, LG. Application of array-based comparative genomic hybridization to clinical diagnosis. J Mol Diagn 2006;8:528533.Google Scholar
Cooley, LD, Lebo, M, Li, MM, Slovak, ML, Wolff, DJ. American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders. Genet Med 2013;15:484494.Google Scholar
Maciejewski, JP, Tiu, RV, O'Keefe, C. Application of array-based whole genome scanning technologies as a cytogenetic tool in haematological malignancies. Br J Haematol 2009;146:479488.Google Scholar
Hagenkord, JM, Gatalica, Z, Jonasch, E, Monzon, FA. Clinical genomics of renal epithelial tumors. Cancer Genet 2011;204:285297.Google Scholar
Dahm, R. Discovering DNA: Friedrich Miescher and the early years of nucleic acid research. Hum Genet 2008;122:565581.Google Scholar
Peirson, SN, Butler, JN. RNA extraction from mammalian tissues. Meth Mol Biol 2007;362:315327.Google Scholar
Chomczynski, P, Sacchi, N. The single-step method of RNA isolation by acid guanidinium thiocyanate–phenol–chloroform extraction: twenty-something years on. Nat Protoc 2006;1:581585.Google Scholar
Bird, IM. Extraction of RNA from cells and tissue. Meth Mol Med 2005;108:139148.Google Scholar
Stangegaard, M, Frøslev, TG, Frank-Hansen, R, Hansen, AJ, Morling, N. Automated extraction of DNA from blood and PCR setup using a Tecan Freedom EVO liquid handler for forensic genetic STR typing of reference samples. J Lab Autom 2011;16:134140.Google Scholar
Aplenc, R, Orudjev, E, Swoyer, J, Manke, B, Rebbeck, T. Differential bone marrow aspirate DNA yields from commercial extraction kits. Leukemia 2002;16:18651866.Google Scholar
Walsh, PS, Metzger, DA, Higuchi, R. Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. Biotechniques 1991;10:506513.Google Scholar
Erlich, HA. Polymerase chain reaction. J Clin Immunol 1989;9:437447.Google Scholar
Erlich, HA, Gelfand, D, Sninsky, JJ.Recent advances in the polymerase chain reaction. Science 1991;252:16431651.Google Scholar
Henegariu, O, Heerema, NA, Dlouhy, SR, Vance, GH, Vogt, PH, Multiplex PCR: critical parameters and step-by-step protocol. Biotechniques 1997;23:504511.Google Scholar
McPherson, MJ, Moller, SG. PCR. New York: Springer, 2000.Google Scholar
Hamfjord, J, Stangeland, AM, Skrede, ML, Tveit, KM, Ikdahl, T, Kure, EH. Wobble-enhanced ARMS method for detection of KRAS and BRAF mutations. Diagn Mol Pathol 2011;20:158165.Google Scholar
Islam, M, Awan, FR, Baig, SM. Development of ARMS-PCR assay for genotyping of Pro12Ala SNP of PPARG gene: a cost effective way for case–control studies of type 2 diabetes in developing countries. Mol Biol Rep 2014;41:55855591.Google Scholar
Sanger, F, Nicklen, S. Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 1977;74:54635467.Google Scholar
Volikos, E, Robinson, J, Aittomaki, K, Mecklin, JP, Jarvinen, H, Westerman, AM, de Rooji, FW, Vogel, T, Moeslein, G, Launonen, V, Tomlinson, IP, Silver, AR, Aaltonen, LA. LKB1 exonic and whole gene deletions are a common cause of Peutz–Jeghers syndrome. J. Med Genet 2006;43:e18.Google Scholar
Nyrén, P. The history of pyrosequencing. Meth Mol Biol 2007;373: 114.Google ScholarPubMed
Boland, CR, Goel, A. Microsatellite instability in colorectal cancer. Gastroenterology 2010;138:20732087.Google Scholar
Buecher, B, Cacheux, W, Rouleau, E, Dieumegard, B, Mitry, E, Lièvre, A. Role of microsatellite instability in the management of colorectal cancers. Dig Liver Dis 2013;45:441449.Google Scholar
Jeffreys, AJ, Wilson, V, Thein, S.W., Hypervariable “minisatellite” regions in human DNA. Nature 1984;314:6773.Google Scholar
Radonic, A, Thulke, S, Mackay, IM, Landt, O, Siegert, W, Nitsche, A, Guideline for reference gene selection for quantitative real-time PCR. Biochem Biophys Res Commun 2004;313:856862.Google Scholar
Dheda, K, Huggett, JF, Bustin, SA, Johnson, MA, Rook, G, Zumla, A, Validation of housekeeping genes for normalizing RNA expression in real-time PCR. Biotechniques 2004;37:112119.Google Scholar
Lang, AH, Drexel, H, Geller-Rhomberg, S, Stark, N, Winder, T, Geiger, K, Muendlein, A. Optimized allele-specific real-time PCR assays for the detection of common mutations in KRAS and BRAF. J Mol Diagn 2011;13:2328.Google Scholar
Sykes, PJ, Neoh, SH, Morley, AA, et al. Quantitation of targets for PCR by use of limiting dilution. Biotechniques 1992;13:444449.Google Scholar
Dressman, D, Yan, H, Traverso, G, Kinzler, KW, Vogelstein, B. Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations. Proc Natl Acad Sci USA 2003;100:88178822.Google Scholar
Rusk, N. Torrents of sequence. Nat Meth 2011;8:44.Google Scholar
Bentley, DR, Balasubramanian, S, Swerdlow, HP, Smith, GP, Milton, J, Brown, CG, et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 2008;456:5359.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×