2012 Fiscal Year Final Research Report
he analysis of the TGF-β family and angiodysplasia bywhole exome sequencing.
| Project/Area Number |
23659437
|
|---|
| Research Category |
Grant-in-Aid for Challenging Exploratory Research
|
| Allocation Type | Multi-year Fund |
|---|
| Research Field |
Respiratory organ internal medicine
|
|---|
| Research Institution | Saitama Medical University |
|---|
Principal Investigator |
|
|---|
| Project Period (FY) |
2011 – 2012
|
| Keywords | 呼吸器病学 |
|---|
| Research Abstract |
The purpose of this study isto reveal thegene forarteriovenousmalformationof unknown cause. Cause of arteriovenous malformation such as Osler-Weber-Rendu disease or heritable pulmonary arterial hypertension is caused by single gene defects such as the TGF-beta family gene.Wehypothesized thatmalformationisassociated with TGF-beta gene family. Using patient samples as arteriovenous malformation, we analyzed by whole exome sequencing and investigated that mutations are present in the TGF-beta family genes. In the gene family of about 70 genes, we found two candidate genes where the mutation in exon on.
|
