Human Molecular Genetics Advance Access originally published online on July 15, 2003
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Human Molecular Genetics, 2003, Vol. 12, No. 17 2145-2152
DOI: 10.1093/hmg/ddg230
© 2003 Oxford University Press
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Received April 22, 2003; Accepted July 5, 2003
Chromosomal abnormalities, such as deletions and duplications, are characterized by specific and often complex phenotypes resulting from an imbalance in normal gene dosage. However, routine chromosome banding is not sensitive enough to detect subtle chromosome aberrations (<5–10 Mb). Array-based comparative genomic hybridization (array CGH) is a powerful new technology capable of identifying chromosomal imbalance at a high resolution by co-hybridizing differentially labeled test and control DNAs to a microarray of genomic clones. We used a previously assembled contig of large-insert clones that span 10.5 Mb of the most distal region of 1p36 to design a microarray. The array includes 97 clones from 1p36, 41 clones from the subtelomeric regions of all human chromosomes, and three clones from each of the X and Y chromosomes. We used this microarray to study 25 subjects with well-characterized deletions of 1p36. All array CGH results agree with the deletion sizes and locations of the breakpoints in these subjects as determined previously by FISH and microsatellite analyses. Terminal deletions, interstitial deletions, derivative chromosomes and complex rearrangements were also identified. We anticipate that array CGH will change the diagnostic approach to many congenital and acquired genetic diseases such as mental retardation, birth defects and cancer.
* To whom correspondence should be addressed at: Health Research and Education Center, Washington State University Spokane, Box 1495, Spokane, WA 99210-1495, USA. Tel: +1 5093686710; Fax: +1 5093587627; Email: lshaffer{at}wsu.edu
Present address: Health Research and Education Center, Washington State University, Spokane, Washington, USA.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  P. Chavan, K. Joshi, and B. Patwardhan DNA Microarrays in Herbal Drug Research Evid. Based Complement. Altern. Med., December 1, 2006; 3(4): 447 - 457. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 B. A. Bejjani and L. G. Shaffer Application of Array-Based Comparative Genomic Hybridization to Clinical Diagnostics J. Mol. Diagn., November 1, 2006; 8(5): 528 - 533. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T Sahoo, S U Peters, N S Madduri, D G Glaze, J R German, L M Bird, R Barbieri-Welge, T J Bichell, A L Beaudet, and C A Bacino Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations J. Med. Genet., June 1, 2006; 43(6): 512 - 516. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. E.L.M. Vissers, J. A. Veltman, A. G. van Kessel, and H. G. Brunner Identification of disease genes by whole genome CGH arrays Hum. Mol. Genet., October 15, 2005; 14(suppl_2): R215 - R223. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J Schoumans, C Ruivenkamp, E Holmberg, M Kyllerman, B-M Anderlid, and M Nordenskjold Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH) J. Med. Genet., September 1, 2005; 42(9): 699 - 705. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. S. Price, R. Regan, R. Mott, A. Hedman, B. Honey, R. J. Daniels, L. Smith, A. Greenfield, A. Tiganescu, V. Buckle, et al. SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data Nucleic Acids Res., June 16, 2005; 33(11): 3455 - 3464. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C Le Caignec, M Boceno, P Saugier-Veber, S Jacquemont, M Joubert, A David, T Frebourg, and J M Rival Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations J. Med. Genet., February 1, 2005; 42(2): 121 - 128. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R Redon, M Rio, S G Gregory, R A Cooper, H Fiegler, D Sanlaville, R Banerjee, C Scott, P Carr, C Langford, et al. Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome? J. Med. Genet., February 1, 2005; 42(2): 166 - 171. [Full Text] [PDF]
|
|
|
|
|
|
N M Solomon, S A Ross, T Morgan, J L Belsky, F A Hol, P S Karnes, N J Hopwood, S E Myers, A S Tan, G L Warne, et al. Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3 J. Med. Genet., September 1, 2004; 41(9): 669 - 678. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G Van Buggenhout, C Melotte, B Dutta, G Froyen, P Van Hummelen, P Marynen, G Matthijs, T de Ravel, K Devriendt, J P Fryns, et al. Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map J. Med. Genet., September 1, 2004; 41(9): 691 - 698. [Full Text] [PDF]
|
|
|
|
 |
|
 L. G. Shaffer and B. A. Bejjani A cytogeneticist's perspective on genomic microarrays Hum. Reprod. Update, May 1, 2004; 10(3): 221 - 226. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C Shaw-Smith, R Redon, L Rickman, M Rio, L Willatt, H Fiegler, H Firth, D Sanlaville, R Winter, L Colleaux, et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features J. Med. Genet., April 1, 2004; 41(4): 241 - 248. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. J. Shaw and J. R. Lupski Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease Hum. Mol. Genet., April 1, 2004; 13(90001): R57 - 64. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C J Shaw, C A Shaw, W Yu, P Stankiewicz, L D White, A L Beaudet, and J R Lupski Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders J. Med. Genet., February 1, 2004; 41(2): 113 - 119. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. C. Ballif, W. Yu, C. A. Shaw, C. D. Kashork, and L. G. Shaffer Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions Hum. Mol. Genet., September 1, 2003; 12(17): 2153 - 2165. [Abstract] [Full Text] [PDF]
|
|