1.The Pattern of Differentially Expressed Genes in Biliary Atresia.
Byung Ho CHOE ; Kyung Mo KIM ; Soonhak KWON ; Kun Soo LEE ; Ja Hoon KOO ; Hyun Mi LEE ; Moon Kyu KIM ; Jung Chul KIM
Journal of Korean Medical Science 2003;18(3):392-396
Biliary atresia is a progressive obliterative cholangiopathy, but the etiology of this disorder remains uncertain. Identifying genes specifically expressed in biliary atresia and analyzing the pattern of expression may lead to a better understanding of the pathogenesis. Liver tissues were taken from a recipient with biliary atresia and a normal donor during liver transplantation. Total RNA was extracted from each sample and reversely transcribed to cDNA. Then radiolabeled cDNA probe pools were made by random primed DNA labeling method and used for screening of differentially expressed genes by hybridizing with expressed sequence tags (EST) dot blot panel. Northern blot hybridization was done to confirm that these genes are also differentially expressed in other liver tissues. Among 1,730 EST clones, 26 cDNA clones were significantly overexpressed in biliary cirrhosis, while 2 clones were significantly decreased in biliary atresia. By Northern blot hybridization, the results of tissue inhibitor of metalloproteinase (TIMP)-1 and IGFBP-2 were well correlated with differential EST screening (DES). This study identified the pattern of differentially expressed genes in the biliary cirrhosis due to biliary atresia using DES technique.
Biliary Atresia/*genetics
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Blotting, Northern
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Gene Expression Profiling/*methods
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Gene Library
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Human
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Insulin-Like Growth Factor-Binding Protein 2/genetics
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Tissue-Inhibitor of Metalloproteinase-1/genetics
2.A case of neonatal intrahepatic cholestasis caused by citrin deficiency complicated with congenital biliary atresia.
Fan TONG ; Jian-bin YANG ; Xiao-lei HUANG ; Xue-lian ZHOU ; Ru-lai YANG
Chinese Journal of Pediatrics 2013;51(11):863-865
Biliary Atresia
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diagnosis
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etiology
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therapy
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Bilirubin
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blood
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Biomarkers
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blood
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Calcium-Binding Proteins
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deficiency
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Cholangiopancreatography, Magnetic Resonance
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Cholestasis, Intrahepatic
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diagnosis
;
etiology
;
therapy
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Citrullinemia
;
diagnosis
;
etiology
;
therapy
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DNA Mutational Analysis
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Humans
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Infant
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Jaundice
;
diagnosis
;
etiology
;
therapy
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Liver Function Tests
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Male
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Mitochondrial Membrane Transport Proteins
;
genetics
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Mutation
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Organic Anion Transporters
;
deficiency