History and evolution of cytogenetic techniques: Current and future applications in basic and clinical research

• Published in: Mutation research. Genetic toxicology and environmental mutagenesis 2018-12, Vol.836 (Pt A), p.3-12
• Main Authors: Balajee, Adayabalam S., Hande, M. Prakash
• Format: Article
• Language: English
• Subjects: Chromosome aberrations; Cytogenetics; Fluorescence in situ hybridisation; Molecular Cytogenetics
• ISSN: 1383-5718; 1879-3592
• DOI: 10.1016/j.mrgentox.2018.08.008

•History and evolution of cytogenetic techniques and their applications.•Development of Fluorescence in situ Hybridisation (FISH) techniques.•Development of molecular cytogenetic techniques for probing gene and genome structure.•Current and future applications of FISH. Chromosomes are the vehicles of genes, which are the functional units of a cell’s nucleus. In humans, there are more than 20,000 genes that are distributed among 46 chromosomes in somatic cells. The study of chromosome structure and function is known as cytogenetics which is historically a field of hybrid science encompassing cytology and genetics. The field of cytogenetics has undergone rapid developments over the last several decades from classical Giemsa staining of chromosomes to 3-dimensional spatial organization of chromosomes with a high resolution mapping of gene structure at the nucleotide level. Improved molecular cytogenetic techniques have opened up exciting possibilities for understanding the chromosomal/molecular basis of various human diseases including cancer and tissue degeneration. This review summaries the history and evolution of various cytogenetic techniques and their current and future applications in diverse areas of basic research and medical diagnostics.