| Project/Area Number |
21791006
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Keio University |
|---|
Principal Investigator |
NARUMI Satoshi Keio University, 医学部, 助教 (40365317)
|
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| Project Period (FY) |
2009 – 2010
|
| Project Status |
Completed (Fiscal Year 2010)
|
| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2010: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2009: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | 発生・分化 / ゲノム / 遺伝学 / マイクロアレイ / 先天性甲状腺機能低下症 / 甲状腺発生異常 / 分子遺伝学 / ゲノム構造異常 |
|---|
| Research Abstract |
We screened copy number variation (CNV) abnormalities in 57 Japanese patients with thyroid dysgenesis. Among them, 50 patients had extrathyroidal complications, while the remaining seven did not. The genome-wide CNV analyses showed that two patients with extrathyroidal complications (e.g., cleft palate, cardiac malformation) had a seemingly pathogenic CNV (deletion or duplication), of which size was about 3 Mb. CNV abnormalities are important causes of complicated thyroid dysgenesis, although the overall prevalence among thyroid dysgenesis is low.
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