Cytogenetics

Cytogenetics is a branch of genetics that is concerned with the study of the structure and function of the cell, especially the chromosomes. It includes routine analysis of G-banding karyotypes, other cytogenetic banding techniques, as well as molecular cytogenetics such as FISH and CGH.

History

Cytogenetics had its beginnings in 1902 when Walter Sutton and Theodor Boveri independently hypothesized that chromosomes, discovered in 1888 by Wilhelm Roux, were the carriers of genetic material. From 1910-1930, most of the key concepts of chromosome biology were established.

Techniques

Cytogenetics uses a variety of techniques to investigate the structure and function of chromosomes and genes. These techniques include karyotyping, FISH, and CGH.

Karyotyping

Karyotyping is the process of pairing and ordering all the chromosomes of an organism, thus providing a genome-wide snapshot of an individual's genetic and chromosomal makeup. Chromosomes are normally visible under a light microscope only during cell division. As such, cells are arrested in metaphase in standard protocols for karyotyping.

Fluorescent in situ hybridization (FISH)

FISH is a molecular cytogenetic technique that uses fluorescent probes that bind to only those parts of the chromosome with a high degree of sequence complementarity. It was developed by biomedical researchers in the early 1980s and is used to detect and localize the presence or absence of specific DNA sequences on chromosomes.

Comparative genomic hybridization (CGH)

CGH is a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared to a reference sample, without the need for culturing cells.

Applications

Cytogenetics has many practical applications such as clinical genetics, where it can be used to diagnose genetic diseases and predict disease outcomes; in cancer genetics, where it can be used to detect chromosomal abnormalities in cancer cells; and in evolutionary biology, where it can be used to study the genetic relationships between different species.

See also

• Genetics
• Molecular genetics
• Genomics
• Chromosome
• Karyotype
• FISH
• CGH

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