Chromosomal abnormality, laboratory techniques, tools and databases in molecular Cytogenetics
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Chromosomal abnormality, laboratory techniques, tools and databases in molecular Cytogenetics Somayeh Montazerinezhad1 · Abbasali Emamjomeh1,2 · Behzad Hajieghrari3 Received: 10 July 2020 / Accepted: 3 October 2020 © Springer Nature B.V. 2020
Abstract Cytogenetics is concerned with the structure and number of chromosomes (Karyotyping) and their abnormalities not only in congenital but also in acquired genetic disorders. Chromosomal abnormalities can form when there is an error occurred in chromosome number and, or their structural changes. Such changes happen by itself or inductively by environmental agents like chemical reagents, radiation, etc. Cytogenetics techniques used to understand chromosomal disorders and their relationship to health and disease provide not only valuable clues about chromosome breakage and DNA repair mechanisms but also a more proper understanding of their relationship to cause various illnesses. In this sense, to evaluate chromosomal imbalance and rearrangement, alternative experimental methods have been expanded. Currently, Cytogenetics evolves into a multidimensional science that led to promoting both theoretically and technologically advanced molecular biology, flow cytometry, bioinformatics, and phylogeny. This study investigates the unique laboratory Cytogenetics methods, databases, algorithms, and software used molecular Cytogenetics to identify various chromosomal abnormalities. Keywords Algorithm · Chromosomal rearrangement · Cytogenetic · Database · Software
Introduction Chromosomes remain the structure, exhausted the genetic material (genome) of an organism, ordinarily visible under a light microscope when all chromosomes placed in the center of the cell in the metaphase of cell division after staining. Although chromosomes had been known as cellular structures in the nineteenth century by Schleiden, Virchow, and Abbasali Emamjomeh and Behzad Hajieghrari have contributed equally. * Abbasali Emamjomeh [email protected] * Behzad Hajieghrari [email protected] 1
Department of Plant Breeding and Biotechnology (PBB), Faculty of Agriculture, University of Zabol, P.O. Box: 98615‑538, Zabol, Iran
2
Laboratory of Computational Biotechnology and Bioinformatics (CBB), Department of Bioinformatics, University of Zabol, Zabol, Iran
3
Department of Agricultural Biotechnology, College of Agriculture, Jahrom University, P.O. Box: 74135‑111, Jahrom, Iran
Bütschli (the first scientists who first recognized the chromosome structures), it has much sought after by Mendel’s discovery of its essential role in inheritance. Chromosomal abnormalities (CA) occur due to double-strand breaks of DNA (DSBs) followed by non-homologous double-stranded recombination, forming a new chromosome. In this way, CA can be occurred as a consequence of cross-linking between duplicate DNA sequences, thereby disrupting gene activity and many more, including the development of many tumor-induced and non-tumor-induced diseases in humans. Chromosomal abnormalities are divided into seve
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