GENE-MAPPING OF HUMAN BILIRUBIN UDP-GLUCURONOSYL TRANSFERASE ON 1Q21-Q23 BY A CELL SORTER AND INSITU HYBRIDIZATION

被引：1
|
作者：
HAGIWARA, H
TAKEDA, K
IKEDA, H
NAKAI, H
BURCHEL, B
机构：
[1] KYORIN UNIV,SCH HLTH SCI,DEPT CLIN GENET,HACHIOJI,TOKYO 192,JAPAN
[2] UNIV DUNDEE,DEPT BIOCHEM,DUNDEE DD1 4HN,SCOTLAND
来源：
JAPANESE JOURNAL OF HUMAN GENETICS | 1991年 / 36卷 / 02期
关键词：
SPOT-BLOT HYBRIDIZATION; INSITU HYBRIDIZATION; UDP-GLUCURONOSYL TRANSFERASE; CELL-SORTER; GENE MAPPING;
D O I：
10.1007/BF01876583
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：189 / 194
页数：6
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