| Project/Area Number |
25670173
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Human genetics
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| Research Institution | National Research Institute for Child Health and Development |
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Principal Investigator |
FUKAMI maki 独立行政法人国立成育医療研究センター, その他部局等, その他 (40265872)
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| Co-Investigator(Kenkyū-buntansha) |
IGARASHI Maki 独立行政法人国立成育医療研究センター, 分子内分泌研究部, 研究員 (10623035)
AYABE Tadayuki 独立行政法人国立成育医療研究センター, 分子内分泌研究部, 研究員 (80566555)
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| Project Period (FY) |
2013-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2014: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | 細胞遺伝学 / ゲノム / 染色体微細構造異常 / 疾患 / 遺伝子 / 染色体 |
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| Outline of Final Research Achievements |
In the present study, we characterized several submicroscopic chromosomal rearrangements that underlie human disorders. We utilized array-based comparative genomic hybridization and multiplex ligation dependent probe amplification. As a result, we identified simple and complex rearrangements underlying aromatase excess syndrome. We also detected a hitherto unreported deletion in the pseudoautosomal region of Y chromosome in a patient with Langer mesomelic dysplasia. In addition, we characterized multiple Y chromosomal rearrangements that are associated with the risk of azo/oligospermia.
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