Molecular cytogenetics

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Molecular cytogenetics involves the combination of molecular biology and cytogenetics; using various reagents, molecular cytogenetics seeks to properly distinguish normal and cancer-causing cells. Molecular cytogenetics is a useful tool for the diagnosing and treatment of various malignancies such as brain tumors, haematological malignancies, etc.[1][2] It includes a series of techniques referred to as fluorescence in situ hybridization, or FISH, in which DNA probes are labeled with different colored fluorescent tags to visualize one or more specific regions of the genome. FISH can either be performed as a direct approach to metaphase chromosomes or interphase nuclei. Alternatively, an indirect approach can be taken in which the entire genome can be assessed for copy number changes using virtual karyotyping. Virtual karyotypes are generated from arrays made of thousands to millions of probes, and computational tools are used to recreate the genome in silico.

Studies of meiosis[edit]

In eukaryotes, the Rad51 and Dmc1 proteins have a central role in meiosis. Teresawa et al.[3] using immunofluorescence microscopy found that in Lilium longiflorum, Rad51 and Lim15 (an ortholog of Dmc1) co-localize on meiotic prophase I chromosomes where they form discrete foci. Using electron microscopic immunogold labeling localization, Anderson et al.[4] found Rad51 and/or Lim15 proteins to be components of early meiotic nodules that are involved in recombination related events. The stages of meiosis in which the co-localization of the Rad51 and Lim15 proteins occurs are the leptotene and zygotene stages of meiosis, suggesting that meiotic recombination begins at the leptotene stage with the cooperation of these proteins and continues into zygotene.[3] These proteins catalyze pairing of homologous chromosomes, DNA strand exchange, and recombinational repair of DNA damages.[5]


  1. ^ Kearney, Lyndal; Horsley, Sharon W. (September 2005). "Molecular cytogenetics in haematological malignancy: current technology and future prospects". Chromosoma. 114 (4): 286–294. doi:10.1007/s00412-005-0002-z. ISSN 0009-5915. PMID 16003502. 
  2. ^ Bigner, S. H.; Schröck, E. (November 1997). "Molecular cytogenetics of brain tumors". Journal of Neuropathology and Experimental Neurology. 56 (11): 1173–1181. ISSN 0022-3069. PMID 9370227. 
  3. ^ a b Terasawa M, Shinohara A, Hotta Y, Ogawa H, Ogawa T. Localization of RecA-like recombination proteins on chromosomes of the lily at various meiotic stages. Genes Dev. 1995 Apr 15;9(8):925-34. PMID 7774810
  4. ^ Anderson LK, Offenberg HH, Verkuijlen WM, Heyting C. RecA-like proteins are components of early meiotic nodules in lily. Proc Natl Acad Sci U S A. 1997 Jun 24;94(13):6868-73. PMID 11038554
  5. ^ Harris Bernstein, Carol Bernstein and Richard E. Michod (2011). Meiosis as an Evolutionary Adaptation for DNA Repair. Chapter 19 pages 357-382 in "DNA Repair" (Inna Kruman editor). InTech Open Publisher. doi:10.5772/25117 ISBN 978-953-307-697-3

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