@article{oai:shiga-med.repo.nii.ac.jp:00000475,
 author = {佐藤, 浩 and 青野, 幸子 and 笹岡, 佳子 and 山本, 和雄 and 深野, 美也 and 小祝, 修 and 土井田, 幸郎},
 journal = {滋賀医科大学基礎学研究},
 month = {Mar},
 note = {Departmental Bulletin Paper, Patients with CriglerNajjar syndrome type I inherit an autosomal recessive trait for unconjugated hyperbilirubinemia, which is characterized by a complete absence of bilirubin UDP-glucuronosyltransferase ( UDPGT ) activity. cDNAs encoding two human bilirubin UDPGT isoforms (Brl and Br2) were identified. Brl is constitutively expressed in hepatocytes, but Br2 is expressed by the induction of phenobarbital. Both cDNAs have a
common region corresponding to exons 2-5 of a gene (Gnt -1) which encodes a family of
UDPGT isoenzymes. Exon 1 is unique to each UDPGT. No base change was detected in the common exons and intron-exon boundaries m our patient. However, the exon 1 of Brl
in the patient has a single nucleotide substitution of C to A at base position 855, and the substitution resulted in stop codon, suggesting the synthesis of an inactive truncated protein missing C-terminal 253 amino acid residues. No base change was detected in the exon 1 of Br2. These results suggest that besides the mutation of the exon 1 of Brl, the patient has an additional defect in the region regulating the expression of Br2 0r a gene encoding a
protein related to phenobarbital induction.},
 pages = {1--7},
 title = {体質性黄疸（Crigler-Najjar症候群I型）の遺伝子異常の解析},
 volume = {5},
 year = {1994}
}