Classical and Molecular Cytogenetics: The Principle and Application of Involved Techniques

Authors

  • Yanzhuo Lin

DOI:

https://doi.org/10.54097/hset.v14i.1789

Keywords:

chromosome, karyotype, cytogenetics, chromosome banding, flow karyotyping, fluorescence in situ hybridization, spectral karyotyping, comparative genomic hybridization.

Abstract

Cytogenetics is the study of chromosomes. The involved techniques have an indispensable role in chromosome aberration detection. Taking the invention of in situ hybridization (ISH) as a dividing line, all techniques are categorized into classical and molecular cytogenetics. Typical techniques in classical cytogenetics are chromosome banding and flow karyotyping. Branches of ISH, such as fluorescence in situ hybridization, spectral karyotyping, and comparative genomic hybridization, are often classified as molecular cytogenetics. All of these techniques have provided researchers with either quantitative or qualitative data to aid in the analysis of chromosomes and have made significant contributions to the fields of prenatal detection, prognostic, diagnostics, oncology, etc.

Downloads

Download data is not yet available.

References

P. C. Nowell, (1960) Phytohemagglutinin: An Initiator of Mitosis in Cultures of Normal Human Leukocytes*. Cancer Research, 20 (4): 462 - 466.

C. E. Ford, J.L. Hamerton, (1956) A Colchicine, Hypotonic Citrate, Squash Sequence for Mammalian Chromosomes. Stain Technology, 31 (6): 247 - 251.

S. Makino, (1952) Water-pretreatment squash technic: A new and simple practical method for the chromosome study of animals. Stain Tech, 271 - 7.

T. Caspersson, S. Farber, G. Foley, J. Kudynowski, E. Modest, E. Simonsson, U. Wagh, L. Zech, (1968) Chemical differentiation along metaphase chromosomes. Experimental cell research, 49 (1): 219 - 222.

P. G. Leiman, N. M. Taylor, Reference Module in Life Sciences, Elsevier, 2019.

B. Weisblum, P. L. De Haseth, (1972) Quinacrine, a chromosome stain specific for deoxy adenylate-deoxy thymidylate-rich regions in DNA. Proceedings of the National Academy of Sciences, 69 (3): 629 - 632.

M. Seabright, (1971) A rapid banding technique for human chromosomes. lancet, 2971 - 972.

J. D. Rowley, (1973) A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature, 243 (5405): 290 - 293.

W. A. Bickmore, (2001) Karyotype analysis and chromosome banding. e LS.

R.-D. Wegner, Diagnostic cytogenetics, Springer Science & Business Media2013.

J. J. Yunis, (1976) High resolution of human chromosomes. Science, 191 (4233): 1268 - 1270.

M. Hassan, M.G. Butler, (2016) Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects. European journal of medical genetics, 59 (11): 584 - 589.

J. Gray, R. Langlois, (1986) Chromosome classification and purification using flow cytometry and sorting. Annual Review of Biophysics and Biophysical Chemistry; (USA), 15.

G. Van den Engh, B. Trask, J. Gray, R. Langlois, L. C. Yu, (1985) Preparation and bivariate analysis of suspensions of human chromosomes. Cytometry: The Journal of the International Society for Analytical Cytology, 6 (2): 92 - 100.

R. Langlois, L. Yu, J. Gray, A. Carrano, (1982) Quantitative karyotyping of human chromosomes by dual beam flow cytometry. Proceedings of the National Academy of Sciences, 79 (24): 7876 - 7880.

J. Gray, B. Trask, G. Van den Engh, A. Silva, C. Lozes, S. Grell, S. Schonberg, L. Yu, M. Golbus, (1988) Application of flow karyotyping in prenatal detection of chromosome aberrations. American journal of human genetics, 42 (1): 49.

J.G. Gall, M. L. Pardue, (1969) Formation and detection of RNA-DNA hybrid molecules in cytological preparations. Proceedings of the National Academy of Sciences, 63 (2): 378 - 383.

D. Pinkel, T. Straume, J.W. Gray, (1986) Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proceedings of the National Academy of Sciences, 83 (9): 2934 - 2938.

M. Riegel, (2014) Human molecular cytogenetics: From cells to nucleotides. Genetics and molecular biology, 37194 - 209.

A. R. Shakoori, Fluorescence in situ hybridization (FISH) and its applications, Chromosome Structure and Aberrations, Springer2017, pp. 343 - 367.

T. S. Wan, E.S. Ma, (2012) Molecular cytogenetics: an indispensable tool for cancer diagnosis. Chang Gung Medical Journal, 35 (2): 96 - 110.

J. Bartlett, A. Forsyth, Detection of HER2 gene amplification by fluorescence in situ hybridization in breast cancer, Breast Cancer Research Protocols, Springer2006, pp. 309 - 322.

E. Schröck, S. Du Manoir, T. Veldman, B. Schoell, J. Wienberg, M. Ferguson-Smith, Y. Ning, D. Ledbetter, I. Bar-Am, D. Soenksen, (1996) Multicolor spectral karyotyping of human chromosomes. Science, 273 (5274): 494 - 497.

G. Imataka, O. Arisaka, (2012) Chromosome analysis using spectral karyotyping (SKY). Cell biochemistry and biophysics, 62 (1): 13 - 17.

L. Kearney, (2006) Multiplex-FISH (M-FISH): technique, developments and applications. Cytogenetic and genome research, 114 (3-4): 189 - 198.

S. Uhrig, S. Schoenauer, C. Fauth, A. Wirtz, C. Daumer-Haas, C. Apacik, M. Cohen, J. Müller-Navia, T. Cremer, J. Murken, (1999) Multiplex-FISH for pre-and postnatal diagnostic applications. The American Journal of Human Genetics, 65 (2): 448 - 462.

O. P. Kallioniemi, A. Kallioniemi, J. Piper, J. Isola, F.M. Waldman, J.W. Gray, D. Pinkel, (1994) Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors. Genes, Chromosomes and Cancer, 10 (4): 231 - 243.

S. du Manoir, M. R. Speicher, S. Joos, E. Schröck, S. Popp, H. Döhner, G. Kovacs, M. Robert-Nicoud, P. Lichter, T. Cremer, (1993) Detection of complete and partial chromosome gains and losses by comparative genomic in situ hybridization. Human genetics, 90 (6): 590 - 610.

A. Kallioniemi, O.-P. Kallioniemi, D. Sudar, D. Rutovitz, J.W. Gray, F. Waldman, D. Pinkel, (1992) Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science, 258 (5083): 818 - 821.

D. Sanlaville, J.-M. Lapierre, C. Turleau, A. Coquin, G. Borck, L. Colleaux, M. Vekemans, S.P. Romana, (2005) Molecular karyotyping in human constitutional cytogenetics. European journal of medical genetics, 48 (3): 214 - 231.

Y.-J. Lu, D. Williamson, J. Clark, R. Wang, N. Tiffin, L. Skelton, T. Gordon, R. Williams, B. Allan, A. Jackman, (2001) Comparative expressed sequence hybridization to chromosomes for tumor classification and identification of genomic regions of differential gene expression. Proceedings of the National Academy of Sciences, 98 (16): 9197 - 9202.

Downloads

Published

29-09-2022

How to Cite

Lin, Y. (2022). Classical and Molecular Cytogenetics: The Principle and Application of Involved Techniques. Highlights in Science, Engineering and Technology, 14, 239-244. https://doi.org/10.54097/hset.v14i.1789