Application of array-based comparative genomic hybridization to clinical diagnostics

被引:117
作者
Bejjani, Bassem A. [1 ]
Shaffer, Lisa G. [1 ]
机构
[1] Signature Genom LLC, Spokane, WA 99204 USA
关键词
D O I
10.2353/jmoldx.2006.060029
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
Microarray-based comparative genomic hybridization (array CGH) is a revolutionary platform that was recently adopted in the clinical laboratory. This technology was first developed as a research tool for the investigation of genomic alterations in cancer. It allows for a high-resolution evaluation of DNA copy number alterations associated with chromosome abnormalities. Array CGH is based on the use of differentially labeled test and reference genomic DNA samples that are simultaneously hybridized to DNA targets arrayed on a glass slide or other solid platform. in this review, we examine the technology and its transformation from a research tool into a maturing diagnostic instrument. We also evaluate the various approaches that have shaped the current platforms that are used for clinical applications. Finally, we discuss the advantages and shortcomings of "whole-genome" arrays and compare their diagnostic use to "targeted" arrays. Depending on their design, microarrays provide distinct advantages over conventional cytogenetic analysis because they have the potential to detect the majority of microscopic and submicroscopic chromosomal abnormalities. This new platform is poised to revolutionize modern cytogenetic diagnostics and to provide clinicians with a powerful tool to use in their increasingly sophisticated diagnostic capabilities.
引用
收藏
页码:528 / 533
页数:6
相关论文
共 32 条
[1]   Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene [J].
Albertson, DG ;
Ylstra, B ;
Segraves, R ;
Collins, C ;
Dairkee, SH ;
Kowbel, D ;
Kuo, WL ;
Gray, JW ;
Pinkel, D .
NATURE GENETICS, 2000, 25 (02) :144-146
[2]   Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more? [J].
Bejjani, BA ;
Saleki, R ;
Ballif, BC ;
Rorem, EA ;
Sundin, K ;
Theisen, A ;
Kashork, CD ;
Shaffer, LG .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 134A (03) :259-267
[3]   High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH [J].
Bruder, CEG ;
Hirvelä, C ;
Tapia-Paez, I ;
Fransson, I ;
Segraves, R ;
Hamilton, G ;
Zhang, XX ;
Evans, DG ;
Wallace, AJ ;
Baser, ME ;
Zucman-Rossi, J ;
Hergersberg, M ;
Boltshauser, E ;
Papi, L ;
Rouleau, GA ;
Poptodorov, G ;
Jordanova, A ;
Rask-Andersen, H ;
Kluwe, L ;
Mautner, V ;
Sainio, M ;
Hung, G ;
Mathiesen, T ;
Möller, C ;
Pulst, SM ;
Harder, H ;
Heiberg, A ;
Honda, M ;
Miimura, M ;
Sahlén, S ;
Blennow, E ;
Albertson, DG ;
Pinkel, D ;
Dumanski, JP .
HUMAN MOLECULAR GENETICS, 2001, 10 (03) :271-282
[4]   A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications [J].
Buckley, PG ;
Mantripragada, KK ;
Benetkiewicz, M ;
Tapia-Páez, I ;
de Ståhl, TD ;
Rosenquist, M ;
Ali, H ;
Jarbo, C ;
de Bustos, C ;
Hirvelä, C ;
Wilén, BS ;
Fransson, I ;
Thyr, C ;
Johnsson, BI ;
Bruder, CEG ;
Menzel, U ;
Hergersberg, M ;
Mandahl, N ;
Blennow, E ;
Wedell, A ;
Beare, DM ;
Collins, JE ;
Dunham, I ;
Albertson, D ;
Pinkel, D ;
Bastian, BC ;
Faruqi, AF ;
Lasken, RS ;
Ichimura, K ;
Collins, VP ;
Dumanski, JP .
HUMAN MOLECULAR GENETICS, 2002, 11 (25) :3221-3229
[5]   Development and validation of a CGH microarray for clinical cytogenetic diagnosis [J].
Cheung, SW ;
Shaw, CA ;
Yu, W ;
Li, JZ ;
Ou, ZS ;
Patel, A ;
Yatsenko, SA ;
Cooper, ML ;
Furman, P ;
Stankiewicz, P ;
Lupski, JR ;
Chinault, AC ;
Beaudet, AL .
GENETICS IN MEDICINE, 2005, 7 (06) :422-432
[6]   Diagnostic genome profiling in mental retardation [J].
de Vries, BBA ;
Pfundt, R ;
Leisink, M ;
Koolen, DA ;
Vissers, LELM ;
Janssen, IM ;
van Reijmersdal, S ;
Nillesen, WM ;
Huys, EHLPG ;
de Leeuw, N ;
Smeets, D ;
Sistermans, EA ;
Feuth, T ;
van Ravenswaaij-Arts, CMA ;
van Kessel, AG ;
Schoenmakers, EFPM ;
Brunner, HG ;
Veltman, JA .
AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 77 (04) :606-616
[7]   Chromatin architecture of the human genome: Gene-rich domains are enriched in open chromatin fibers [J].
Gilbert, N ;
Boyle, S ;
Fiegler, H ;
Woodfine, K ;
Carter, NP ;
Bickmore, WA .
CELL, 2004, 118 (05) :555-566
[8]   Methylation-specific oligonucleotide microarray: A new potential for high-throughput methylation analysis [J].
Gitan, RS ;
Shi, HD ;
Chen, CM ;
Yan, PS ;
Huang, THM .
GENOME RESEARCH, 2002, 12 (01) :158-164
[9]  
Greshock J, 2004, GENOME RES, V14, P179
[10]   A microarray-based method for detecting methylated loci [J].
Hatada, I ;
Kato, A ;
Morita, S ;
Obata, Y ;
Nagaoka, K ;
Sakurada, A ;
Sato, M ;
Horii, A ;
Tsujimoto, A ;
Matsubara, K .
JOURNAL OF HUMAN GENETICS, 2002, 47 (08) :448-451