| Project/Area Number |
21790991
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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 | The University of Tokushima |
|---|
Principal Investigator |
KITAMURA Akiko The University of Tokushima, 大学院・ヘルスバイオサイエンス研究部, 助教 (10448318)
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| Project Period (FY) |
2009 – 2010
|
| Project Status |
Completed (Fiscal Year 2010)
|
| Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2010: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2009: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | 全身性エリテマトーデス / ポジショナルクローニング |
|---|
| Research Abstract |
Systemic lupus erythematosus (SLE) is a multifactorial disease in which both genetic and environmental factors are involved. Genome wide association studies revealed many predisposing genes to common forms of SLE. However, those studies have failed to identify genes that strongly contribute to the pathogenesis of SLE. We found one consanguineous SLE family, which consists of 3 affected and 1 unaffected sibling. To identify the underlying gene, we performed a homozygosity mapping and revealed two homozygous regions (FSLE-1, FSLE-2) that spanned 0.7 Mb and 1.1 Mb, respectively. MLOD score was 1.7 and 2.5, respectively. The FSLE-1 did not contain any gene, but the FSLE-2 region contained 40 known and predicted genes. We plan to perform the capture-resequencing analysis of the FSLE-2 region.
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