Gene mapping of human bilirubin UDP-glucuronosyl transferase on 1q21-q23 by a cell sorter and in situ hybridization.
The human liver bilirubin UDP-glucuronosyl transferase (bilirubin UDPGT) [EC 2.4.1.17] is responsible for the enzyme deficiency in Crigler-Najjar syndrome and/or Gilbert's syndrome. The UDPGT, former shows severe jaundice resulted from a complete absence of bilirubin while the latter has a mild manifestation due to a reduction of the enzyme activity. The gene locus of bilirubin UDPGT was mapped to chromosome 1 by spot-blot hybridization using a cell-sorter, and its regional locus was assigned to 1q21-q23 by high resolution in situ hybridization.
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
H
H
Hagiwara
K
K
Takeda
H
H
Ikeda
H
H
Nakai
B
B
Burchel
D002460:Cell Line; D002469:Cell Separation; D002874:Chromosome Mapping / Q000379:methods; D002878:Chromosomes, Human, Pair 1; D015342:DNA Probes / Q000235:genetics; D005434:Flow Cytometry; D014453:Glucuronosyltransferase; D006602:Hexosyltransferases / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008099:Liver / Q000201:enzymology*; D009693:Nucleic Acid Hybridization / Q000235:genetics
D015342:DNA Probes; C019787:bilirubin glucuronoside glucuronosyltransferase; D006602:Hexosyltransferases; D014453:Glucuronosyltransferase