|Budget Amount *help
¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2010: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2009: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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.