| Project/Area Number |
18390423
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (B)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Orthopaedic surgery
|
|---|
| Research Institution | The Institute of Physical and Chemical Research |
|---|
Principal Investigator |
MIYAMOTO Yoshinari The Institute of Physical and Chemical Research, Laboratory for Bone and Joint diseases, visiting scientist (10345217)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
IKEGAWA Shiro RIKEN, Laboratory for Bone and Joint diseases, Laboratory head (30272496)
|
|---|
| Project Period (FY) |
2006 – 2007
|
| Project Status |
Completed (Fiscal Year 2007)
|
| Budget Amount *help |
¥15,790,000 (Direct Cost: ¥13,900,000、Indirect Cost: ¥1,890,000)
Fiscal Year 2007: ¥8,190,000 (Direct Cost: ¥6,300,000、Indirect Cost: ¥1,890,000)
Fiscal Year 2006: ¥7,600,000 (Direct Cost: ¥7,600,000)
|
|---|
| Keywords | genome / genetics / gene / surgery / skeletal dysplasia / 骨系統疾患 / 原因遺伝子 / 遺伝子診断 / Perthes病 / II型コラーゲン / 糖ヌクレオチド輸送体 / 糖鎖科学 / 蝸牛様骨盤異形成症 / 多発性骨端異形成症 / DTDST / 脊椎肋骨異形成症 / 毛髪軟骨低形成症 / 致死性骨格形成異常症 |
|---|
| Research Abstract |
We identified the disease gene for skeletal dysplasia, and examined the mutation spectrum of the gene. The main results are as follows.
1) We made a comprehensive analysis of MED and clarified its genotype-phenotype association.
2) We discovered that DTD mutations cause an intermediate phenotype beiween atelosteogenesis type II and diastrophic dysplasia.
3) We clarified a phenotypic spectrum of sponcYlo-costal dysplasia.
4) We found novel mutations in patients with Martin disease.
5) We found novel RMPM mutations in cartilage-hair hypoplasia.
6) We discovered that SBDS is responsible for spondy lo meta physeal dysplasia, sedagafian type.
7) We discovered that SLC35D1 causes Schneckenbecken dysplasia.
|
