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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.
This gene duplication has created a copy number variation. The chromosome now has two copies of this section of DNA, rather than one. 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]
MLPA has a variety of applications [5] including detection of mutations and single nucleotide polymorphisms, [6] analysis of DNA methylation, [7] relative mRNA quantification, [8] chromosomal characterisation of cell lines and tissue samples, [9] detection of gene copy number, [10] detection of duplications and deletions in human cancer ...
The remaining copy of the tumor suppressor gene can be inactivated by a point mutation or via other mechanisms, resulting in a loss of heterozygosity event, and leaving no tumor suppressor gene to protect the body. Loss of heterozygosity does not imply a homozygous state (which would require the presence of two identical alleles in the cell).
Genetic analysis may be done to identify genetic/inherited disorders and also to make a differential diagnosis in certain somatic diseases such as cancer. Genetic analyses of cancer include detection of mutations, fusion genes, and DNA copy number changes. FDA microbiologist prepares DNA samples for gel electrophoresis analysis
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]
The normal gene dosage is dependent on the species; humans generally have two doses -- one copy from the mother and one from the father. Changes in gene dosage can be a result of copy number variation (gene insertions or gene deletions), or aneuploidy (chromosome number abnormalities). These changes can have significant phenotypic consequences.
Low Copy Number (LCN) is a DNA profiling technique developed by the UK Forensic Science Service (FSS) which has been in use since 1999. [1]In the United Kingdom use of the technique was suspended between 21 December 2007 and 14 January 2008 while the Crown Prosecution Service conducted a review into its use – this suspension has now been lifted.