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.