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Quelle: Katzaki 2009
Seite(n): 18 f., Zeilen: 18: last lines; 19: 1 ff.
Consequently, aCGH is an entirely molecular technique with a cytogenetic application and represents a hybrid method that requires the expertise of both specialties. The current limitations of the technology include the inability to detect balanced chromosome rearrangements and the equivocal nature of copy number alterations of unknown significance that may be identified. Nevertheless, it is being used routinely in the clinical setting with a normal chromosome result in cases of intellectual disability and/or multiple congenital anomalies (ID/MCA); as a result the diagnostic yield in this patient group has increased considerably. [4]

1.2 Array – CGH Methodologies

Two major types of array targets are currently being utilized. Initially, bacterial artificial chromosomes (BACs) were the array target of choice. [6] However, more recently, oligonucleotide arrays have been adopted due to the increased genome coverage they afford. The design of both array types was made possible by the availability of the complete map and sequence of the human genome. The BAC arrays may contain DNA isolated from large insert clones that range in size from 150–200 Kb, spotted directly onto the array or may employ the spotting of PCR products amplified from the BAC clones. [8] These arrays are generally very sensitive and results can be directly validated with FISH using the BAC DNA as a probe. However, production of BAC DNA is laborintensive and the resolution is limited to 50–100 Kb, even on a whole genome tiling path array. [9] Oligonucleotide arrays offer a flexible format with the potential for very high resolution and customization. Several different platforms are available for oligonucleotide arrays, some of which were adapted from genome wide SNP-based oligonucleotide markers and others that were created from a library of virtual probes that span the genome, and consequently can be constructed to have extremely high resolution. [10] Both BAC and [oligonucleotide arrays have been used successfully to detect copy number changes in patients with ID/MCA and autism.]


4. Edelmann, L. and K. Hirschhorn, Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann N Y Acad Sci, 2009. 1151: p. 157-66.

6. Pinkel, D., et al., High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet, 1998. 20(2): p. 207-11.

8. Ylstra, B., et al., BAC to the future! or oligonucleotides: a perspective for micro array comparative genomic hybridization (array CGH). Nucleic Acids Res, 2006. 34(2): p. 445-50.

9. Ishkanian, A.S., et al., A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet, 2004. 36(3): p. 299-303.

10. Shaikh, T.H., Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies. Genet Med, 2007. 9(9): p. 617-25.

Consequently, array-CGH is an entirely molecular technique with a cytogenetic application and represents a hybrid method that requires the expertise of both specialties. The current limitations of the technology include the inability to detect

[page 19:]

balanced chromosome rearrangements and the equivocal nature of copy number alterations of unknown significance that may be identified. Nevertheless, it is being used routinely in the clinical setting with a normal chromosome result in cases of mental retardation and/or multiple congenital anomalies (MR/MCA); as a result the diagnostic yield in this patient group has increased considerably.

3 1.2 Array – CGH Methodologies

Two major types of array targets are currently being utilized. Initially, bacterial artificial chromosomes (BACs) were the array target of choice.6 However, more recently, oligonucleotide arrays have been adopted due to the increased genome coverage they afford. The design of both array types was made possible by the availability of the complete map and sequence of the human genome. The BAC arrays may contain DNA isolated from large insert clones that range in size from 150–200 kb, spotted directly onto the array or may employ the spotting of PCR products amplified from the BAC clones.8 These arrays are generally very sensitive and results can be directly validated with FISH using the BAC DNA as a probe. However, production of BAC DNA is labor-intensive, and the resolution is limited to 50–100 kb, even on a whole genome tiling path array.9 Oligonucleotide arrays offer a flexible format with the potential for very high resolution and customization. Several different platforms are available for oligonucleotide arrays, some of which were adapted from genomewide SNP-based oligonucleotide markers and others that were created from a library of virtual probes that span the genome, and consequently can be constructed to have extremely high resolution.10 Both BAC and oligonucleotide arrays have been used successfully to detect copy number changes in patients with MR/MCA and autism.


3 Edelmann L, Hirschhorn K: Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann N Y Acad Sci 2009; 1151: 157-166.

6 Pinkel D, Segraves R, Sudar D et al: High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998; 20: 207-211.

8 Ylstra B, van den Ijssel P, Carvalho B, Brakenhoff RH, Meijer GA: BAC to the future! or oligonucleotides: a perspective for micro array comparative genomic hybridization (array CGH). Nucleic Acids Res 2006; 34: 445-450.

9 Ishkanian AS, Malloff CA, Watson SK et al: A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 2004; 36: 299-303.

10 Shaikh TH: Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies. Genet Med 2007; 9: 617-625.

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