2005 Fiscal Year Final Research Report Summary
Submicroscopic chromosomal structural aberrations in human developmental disorders
| Project/Area Number |
16390101
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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, 大学院・医学研究科, 教授 (80325638)
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| Co-Investigator(Kenkyū-buntansha) |
NIIKAWA Norio Nagasaki University, Graduate School of Biomedical Sciences, Department of Human Genetics, Professor, 大学院・医歯薬学総合研究科, 教授 (00111170)
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| Project Period (FY) |
2004 – 2005
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| Keywords | spontaneous abortion / mental retardation / microarray / CGH / gene |
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| Research Abstract |
The original BAC microarray was developed, in which a total of 2173 BAC were spotted. All BAC clones were confirmed to show a unique signal at supposed chromosomal location. The microarray CGH system was used for analysis of idiopathic mental retardation, Kabuki make-up syndrome, first trimester spontaneous abortion, and other congenital disorders. Contribution of genomic abnormalities in each disorder was determined. Furthermore microdeletions in Sotos syndrome and structural abnormalities of inv dup del(8p) were extensively analyzed and mechanisms of their origins were validated. Through this project, 9q telomere syndrome was established and its critical region was clearly indicated. All these works demonstrated that the developed microarray system was very useful for detection of submicroscopic genomic abnormalities as well as responsible genes in many human developmental disorders.
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