Establishment of array-based CGH technology and its use for-diagnosis of genetic diseases in clinical setting

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Comparative genomic hybridization (CGH) has already made a significant impact on cancer cytogenetics. However, CGH to metaphase chromosomes can provide only limited resolution at 5-10 Mb level. To circumvent this limitation, array-based CGH has been devised. We have constructed different types of BAC-based CGH-arrays. The first consisted of 〜4500 BACs for genome-wide analysis (named MCG Whole Genome Array-4500) ; this array provided a resolution of 〜0.7Mb. The second consisted of 〜800 BACs harboring 800 known cancer-relaed genes, intended for diagnosis of cancer-specific copy-number aberrations (MCG Cancer Array-800, see URL : http://www.cghtmd.jp/cghdatabase/index.html). The third of our arrays contains 212 contiguous BACs spanning a 〜20-Mb region at 1p36 (MCG 1p36 Contig Array). Furthermore, to accomplish high-throughput screening for methylated sites in the whole genome, we have combined array-CGH with MCA, and our preliminary data show that this "BAC array-based MCA (BAMCA)" can discriminate BAC clones that harbor methylated CpGs on an array platform. Our custom-made CGH-arrays paves the way for identification of disease-related genetic aberrations that have not yet been detected by existing technologies, and our array-based CGH technology should soon be practical for diagnosis of cancer or genetic diseases in clinical settings.