| Project/Area Number |
20790622
|
|---|
| Research Category |
Grant-in-Aid for Young Scientists (B)
|
| Allocation Type | Single-year Grants |
|---|
| Research Field |
Neurology
|
|---|
| Research Institution | Saitama Medical University |
|---|
Principal Investigator |
KOHDA Masakazu Saitama Medical University, 医学部, 研究員 (20415417)
|
|---|
| Project Period (FY) |
2008 – 2009
|
| Project Status |
Completed (Fiscal Year 2009)
|
| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2009: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2008: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
|
|---|
| Keywords | 遺伝子疾患 / 単一遺伝子疾患 / 原因遺伝子同定 / 遺伝学 / バイオインフォマティクス / 難病(神経疾患) / SNP |
|---|
| Research Abstract |
The purpose of this study was to identify the gene responsible for hereditary spastic paraplegia (HSP). The research was carried out as follows : 1) Continuous sampling, 2) Searching for mutations by sequencing, 3) Analysis of structural chromosome aberrations, 4) SNP array analysis for gene discovery. As a result, we confirmed that well-known causative genes do not cause HSP of this family. Furthermore, our analysis narrowed down candidate regions for disease-phenotypes to two chromosomal regions. This has led to the second set of experiments, we will conduct mutation search at the two candidate regions by using high throughput sequencers.
|
