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Graf Isolan
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Untersuchte Arbeit:
Seite: 13, Zeilen: 1-7
Quelle: Liehr 2013
Seite(n): 10-11, Zeilen: 10:5ff - 11:1ff
1.4 Copy number variations (CNVs).

CNVs can either be inherited or caused by de novo mutations of different size. They range from 1 kb to several Mb in size and, therefore, with increasing resolution of aCGH platforms more variations will be detected. These structural variants show variable copy number when compared to a reference genome and include both deletions and duplications of genomic loci (Feuk 2006). They have been reported to encompass as much as 12% of the genome (Redon 2006) and today several molecular mechanisms are known to be responsible for the occurrence of CNVs within the genome (Gu 2008).


21. Feuk, L., Carson A.R. & Scherer S.W. 2006. Structural variation in the human genome. Nat. Rev. Genet. 7: 85–97.

26. Gu W, Zhang F, Lupski JR. Mechanisms for human genomic rearrangements. Pathogenetics. 2008 Nov 3;1(1):4.

63. Redon R. et al. 2006. Global variation in copy number in the human genome. Nature 444: 444–454.

[Page 10]

1.4. Submicroscopic CNVs (MG-CNVs)

MG-CNVs range from 1 kilobasepair (kb) to several Mb in size, are distributed along the entire human genome and with increasing resolution of aCGH platforms, more and more such variants are detected. These structural variants show variable copy numbers when compared to a

[Page 11]

reference genome and may include deletions and duplications of genomic loci [Feuk et al., 2006]. They may encompass as much as 12% of the human genome [Redon et al., 2006].


Feuk, L., Carson, A.R., Scherer, S.W., 2006. Structural variation in the human genome. Nat. Rev. Genet. 7, 85–97.

Redon, R., Ishikawa, S., Fitch, K.R., Feu, L., Perry, G.H., Andrews, T.D., Fiegler, H., Shapero, M.H., Carson, A.R., Chen, W., Cho, E.K., Dallaire, S., Freeman, J.L., González,J.R., Gratacòs, M., Huang, J., Kalaitzopoulos, D., Komura, D., MacDonald, J.R., Marshall, C.R., Mei, R., Montgomery, L., Nishimura, K., Okamura, K., Shen, F., Somerville, M.J. Tchinda, J., Valsesia, A., Woodwark, C., Yang, F., Zhang, J., Zerjal, T., Zhang, J., Armengol, L., Conrad, D.F., Estivill, X., Tyler-Smith, C., Carter, N.P., Aburatani, H., Lee, C., Jones, K.W., Scherer, S.W., Hurles, M.E., 2006. Global variation in copy number in the human genome. Nature 444, 444–454.

Anmerkungen

Thomas Liehr was one of the reviewers of Mmu's thesis in November 2012.

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