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Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals. [1] Copy number variation is a type of structural variation: specifically, it is a type of duplication or deletion event that affects a considerable number of base pairs. [2]
Amplifications: Technically, an amplification is a type of copy number gain in which there is a copy number >10. In the context of cancer biology, amplifications are often seen in oncogenes. This could indicate a worse prognosis, help categorize the tumor, or indicate drug eligibility.
Ligase chain reaction, a method that amplifies the nucleic acid used as the probe. For each of the two DNA strands, two partial probes are ligated to form the actual one; thus, LCR uses two enzymes: a DNA polymerase (used for initial template amplification and then inactivated) and a thermostable DNA ligase. [3]
Array CGH has proven to be a specific, sensitive, fast and high-throughput technique, with considerable advantages compared to other methods used for the analysis of DNA copy number changes making it more amenable to diagnostic applications. Using this method, copy number changes at a level of 5–10 kilobases of DNA sequences can be detected. [15]
Copy number analysis is the process of analyzing data produced by a test for DNA copy number variation in an organism's sample. One application of such analysis is the detection of chromosomal copy number variation that may cause or may increase risks of various critical disorders.
Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution. It can be defined as any duplication of a region of DNA that contains a gene .
Multiplex ligation-dependent probe amplification (MLPA) is a variation of the multiplex polymerase chain reaction that permits amplification of multiple targets with only a single primer pair. [1] It detects copy number changes at the molecular level, and software programs are used for analysis.
Homogeneously staining regions (HSRs) are chromosomal segments with various lengths and uniform staining intensity after G banding.This type of aberration is also known as Copy Number Gains or Amplification.