1994 Fiscal Year Final Research Report Summary
Gene analysis for bilirubin UDP-glucuronosyltransferase in patients with Crigler-Najjar Syndrome
| Project/Area Number |
05670465
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Gastroenterology
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| Research Institution | Shiga University of Medical Science |
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Principal Investigator |
SATO Hiroshi Shiga Univ.Medical Science Faculty of Medicine Associate Professor, 医学部, 助教授 (90090430)
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| Project Period (FY) |
1993 – 1994
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| Keywords | Crigler-Najjar Syndrome / Bilirubin / Gene Analysis / Jaundice / UDP-glucuronosyltransferase / Metabolic Disorders |
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| Research Abstract |
We found a new type of defect in the gene for bilirubin UDP-glucuronosyltransferase (UDPGT1) in a Japanese patient with Crigler-Najjar syndrome type I.A homozygous mutation is located on exon 1 and a single nucleotide substitution, that is, C is changed to A at base position 840. Two bilirubin UDPGTs (UDPGT1 and UDPGT2) have been reported. Our finding indicates that UDPGT1 is essential for glucuronidation and excretion of bilirubin.
We also analyzed the DNA sequence of the bilirubin UDPGT gene in a 5-year-old Japanese patient with Crigler-Najjar syndrome type II.Point mutation was detected on exon1 of the UDPGT1. The abnormality was single nucleotide substitution of G by A at base position 211. The mutation results in a change of glycine to arginine at amino acid position 71. Our patient was homozygous for the mutation. The finding suggests that the Crigler-Najjar syndrome type II is inherited as an autosomal recessive trait.
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