Gene Copy Number Variation

Gene copy number variation (GCNV) the discovery that GCNV between individuals is a major factor in human genetics was unsuspected. This complicated... 

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Genome Variation Influencing Gene Copy Number and Disease... 

Hollox EJ, Armour JA, Barber JC. Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am J Hum Genet 2003 73(3) 591-600. 

Franchina M, Kay PH. Allele-specific variation in the gene copy number of human cytosine 5-methyltransferase. Hum Hered 2000 50(2) 112-117. 

Nozawa M, Kawahara Y, Nei M (2007) Genomic drift and copy number variation of sensory receptor genes in humans. Proc Natl Acad Sci USA 104 20421-20426... 

Young JM, Endicott RM, et al. (2008) Extensive copy-number variation of the human olfactory receptor gene family. Am J Hum Genet 83(2) 228-242... 

Quantitative PCR (qPCR) is a variation of real-time PCR that can be used to evaluate gene expression levels or gene copy numbers. Quantitative assessment of the initial template used for PCR amplification can be attained by comparing the amount of PCR product of the target sequence with the PCR products generated by amplification of the known quantities of DNA or cDNA. 

Copy Number Variation (CNV). Chromosomes of different individuals carry the same number of genes or DNA sequences. 

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