2010 Fiscal Year Final Research Report
Establishment of comprehensive genetic diagnosis system for congenital intrahepatic cholestasis
Project/Area Number |
21790543
|
Research Category |
Grant-in-Aid for Young Scientists (B)
|
Allocation Type | Single-year Grants |
Research Field |
Laboratory medicine
|
Research Institution | Keio University |
Principal Investigator |
TORII Chiharu Keio University, 医学部, 研究員 (70383908)
|
Project Period (FY) |
2009 – 2010
|
Keywords | ゲノム / 遺伝子 / 先天性肝内胆汁うっ滞症遺 / 伝子診断 |
Research Abstract |
Congenital intrahepatic cholestasis includes progressive familial intrahepatic cholestasis (PFIC) type1, 2 and 3, and Alagille Syndrome. Traditionally the definite diagnosis of the disease has been usually based on a liver biopsy. Genetic diagnosis represents a non-invasive alternative to liver biopsy. In this study, we developed novel genetic diagnosis system of three causing genes (ATP8B1, ABCB11 and ABCB4) of PFIC, and evaluated its specificity and sensitivity.
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