Jagged1 mutation analysis in Alagille syndrome patients / 소아과
Korean Journal of Pediatrics
;
: 519-522, 2006.
Article
in Korean
| WPRIM
| ID: wpr-31868
ABSTRACT
PURPOSE:
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.METHODS:
Genomic DNA was extracted from peripheral leukocytes of 6 patients. The 26 exons of JAG1 gene were amplified and PCR products were directly sequenced.RESULTS:
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.CONCLUSION:
Mutations identified in this study are expected to give rise to truncated proteins.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Spine
/
DNA
/
Polymerase Chain Reaction
/
Exons
/
Frameshift Mutation
/
Alagille Syndrome
/
Carcinoma, Hepatocellular
/
Heart
/
Leukocytes
/
Liver
Limits:
Humans
Language:
Korean
Journal:
Korean Journal of Pediatrics
Year:
2006
Type:
Article
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