Korean Journal of Pediatrics 2006;49(5):519-522.
Published online May 15, 2006.
Jagged1 mutation analysis in Alagille syndrome patients
Jae Sung Ko, Hye Ran Yang, Kyung Mo Kim, Jeong Kee Seo
Department of Pediatrics, Seoul National University College of Medicine
Alagille 증후군에서 Jagged1 돌연변이
고재성, 양혜란, 김경모, 서정기
서울대학교 의과대학 소아과학교실
Jeong Kee Seo, Email: jkseo@snu.ac.kr
: Alagille syndrome is an autosomal dominant disorder with developmental abnormalities affecting the liver, heart, eyes, vertebrae, and craniofacial region. The Jagged1(JAG1) gene, which encodes a ligand of Notch, has been found mutated in Alagille syndrome. The aim of the study was to investigate the mutation analysis of JAG1 gene in Korean patients with Alagille syndrome.
: Genomic DNA was extracted from peripheral leukocytes of 6 patients. The 26 exons of JAG1 gene were amplified and PCR products were directly sequenced.
: Two novel frameshift mutations were found. 118delC in exon 2 was found in a patient who developed hepatocellular carcinoma at 4 years of age. 999-1000delTG was identified in exon 7.
: Mutations identified in this study are expected to give rise to truncated proteins.
Key Words: Alagille syndrome , Jagged1 , JAG1 , Mutation , Hepatocellular carcinoma

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