MOLECULAR CYTOGENETIC TECHNICS Meaning and
Definition
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Molecular cytogenetic techniques refer to a set of advanced laboratory methods used to study the structure and behavior of chromosomes and genes at the molecular level. This field combines the principles of cytogenetics (the study of chromosomes) and molecular biology, focusing on the analysis of genetic material within cells.
These techniques involve the application of various tools and technologies to visualize and analyze chromosomes and genes. One commonly used method is fluorescence in situ hybridization (FISH), which uses fluorescent probes to detect and map specific genes or DNA sequences on chromosomes. This technique allows researchers to identify chromosomal abnormalities, such as deletions, duplications, translocations, or inversions, which may be associated with genetic disorders.
Other molecular cytogenetic techniques include array comparative genomic hybridization (aCGH) and spectral karyotyping (SKY). aCGH enables the detection of DNA copy number changes across the entire genome, helping to identify potential genetic disorders caused by the gain or loss of specific genes. SKY involves the use of fluorescently labeled probes to visualize the entire set of chromosomes in a cell, allowing for the detection of complex rearrangements or structural abnormalities.
The application of molecular cytogenetic techniques has significantly advanced our understanding of genetic diseases, including cancer, developmental disorders, and genetic syndromes. These techniques are widely used in diagnostic laboratories and research settings to study chromosomal abnormalities, elucidate disease mechanisms, and develop personalized treatment strategies.
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