| Project/Area Number |
16K19642
|
|---|
| Research Category |
Grant-in-Aid for Young Scientists (B)
|
| Allocation Type | Multi-year Fund |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | Kobe University |
|---|
Principal Investigator |
|
|---|
| Research Collaborator |
IIJIMA Kazumoto 神戸大学, 大学院医学研究科内科系講座小児化学分野, 教授 (00240854)
NOZU Kandai 神戸大学, 大学院医学研究科内科系講座小児化学分野, 准教授 (70362796)
MINAMIKAWA Shogo 神戸大学, 医学部付属病院, 特定助教 (10772634)
|
|---|
| Project Period (FY) |
2016-04-01 – 2018-03-31
|
| Project Status |
Completed (Fiscal Year 2017)
|
| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2017: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2016: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
|
|---|
| Keywords | Alport症候群 / 次世代シークエンサー / 網羅的遺伝子解析 / 体細胞モザイク / 高い診断能力 / 修飾遺伝子 / 診断 |
|---|
| Outline of Final Research Achievements |
We established a diagnostic system that comprehensively analyze podocyte-related 45 genes by targeted sequencing using next generation sequencer (NGS). We analyzed 185 families suspected as having Alport syndrome (AS) and causative variants were identified in 147 families. As a result of large-scale analysis, it was possible to analyze the genotype-phenotype correlation of AS and we reported on the details about female patients with X-linked AS.
We also clarified that NGS analysis detects other inherited kidney diseases, AS patients with copy number variation or somatic mosaic.
|
