| Co-Investigator(Kenkyū-buntansha) |
IMOTO Issei Medical Research Institute, Department of Molecular Cytogenetics, Associate Professor, 難治疾患研究所, 助教授 (30258610)
OKUYAMA Torayuki National Center for Child Health and Development, Division of Clinical Genetics and Molecular Medicine, Head, 特殊診察部, 医長 (40177192)
HATA Akira Chiba University, Graduate School of Medicine, Professor, 大学院医学研究院, 教授 (00244541)
MAKITA Yoshio Asahikawa Medical College, Pediatrics, Research Associate, 医学部・小児科学講座, 助手 (20271778)
OKAMOTO Nobuhiko Osaka Medical Center and Research Institute for Maternal and Child Health, Councilor, 参事 (30416242)
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| Research Abstract |
The human genome sequencing project had been conducted successfully, with 99% of the genome sequenced with 99.99% accuracy. In the post-sequence era, detection of disease-related genomic alterations is directly connected with identification of genes associated with multiple congenital anomalies with mental retardation (MCA/MR), autism, and other unknown genomic disorders. However, we had none of tools for exploring cryptic chromosome aberrations at 100kb-level. In order to overcome the situation, we have constructed high-resolution CGH-arrays as follows, (1) Whole Genome Array (WGA)-4500, which contains 4523 BACs throughout the whole genome, (2) Cancer Array-800, which harbors 800 BACs for different cancer-related genes, (3) 1p36-contig array, which covers about 20Mb spanning 1p36 region with 212 BACs, (4) Chromosome X-tiling array, which contains 1001 BACs throughout chromosome X except pseudo-autosomal region, and (5) Genome Disorder (GD)-array, which is employed as the diagnostic tool for known genomic disorders. Using those in-house BAC arrays, we explored cryptic chromosome aberrations in a large number of patients with MCA/MR, and detected de novo submicroscopic aberrations related to the pathogenesis of unknown MCA/MR in some of those patients.
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