2007 Fiscal Year Final Research Report Summary
Investigation of genes for genomic disorders by microarray CGH
| Project/Area Number |
18390108
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Human genetics
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| Research Institution | Yokohama City University |
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Principal Investigator |
MATSUMOTO Naomichi Yokohama City University, Graduate School of Medicine Department of Human Genetics, Professor (80325638)
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| Project Period (FY) |
2006 – 2007
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| Keywords | Gene / Genome / Brain / Nerve / Bioteeh nology / Neurological diseases |
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| Research Abstract |
Using 2.1K and 4.2K BAC microarrays consisting of 2173 and 4219 BAC clones, congenital anomaly syndromes associated with mental retardation and spontaneous abortions were investigated. As for microarray platforms, the 4.2K array system was successfully established in this project, which later turned out to be a highly efficient system to detect chromosomal microscopic copy number changes. Aicardi syndrome and Coffin-Siris syndrome were intensively analyzed as they were supposed to be genomic disorders, but unfortunately no abnormal copy number changes were detected. Spontaneous abortions were also investigated, and approximately 10% of abortus with normal karyotype by G-banding chromosomal analysis showed(sub)icroscopic chromosomal abnormalities. Furthermore, we could successfully determine an atypical microdeletion at nucleotide level which caused Angelman syndrome but Prader-Willi syndrome and could successfully exclude snoRNA HBII-52 as a potential candidate gene for Prader-Willi syndrome. All of these data strongly suggest that microarray systems we developed are very useful to analyze genomic disorders and may eventually isolate genes associated with genomic disorders.
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