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.

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页码：189 / 194

页数：6

相关论文

共 11 条

[1] HEPATIC BILIRUBIN UDP-GLUCURONYL TRANSFERASE ACTIVITY IN LIVER DISEASE AND GILBERTS SYNDROME [J].

BLACK, M ;

BILLING, BH .

NEW ENGLAND JOURNAL OF MEDICINE, 1969, 280 (23) :1266-&

[2]

DUTRILLAUX B, 1981, HUM GENET, V57, P93

[3] CHROMOSOMAL MAPPING OF A HUMAN PHENOL UDP-GLUCURONOSYLTRANSFERASE, GNT1 [J].

HARDING, D ;

JEREMIAH, SJ ;

POVEY, S ;

BURCHELL, B .

ANNALS OF HUMAN GENETICS, 1990, 54 :17-21

[4] LOCALIZATION OF SINGLE COPY DNA-SEQUENCES ON G-BANDED HUMAN-CHROMOSOMES BY INSITU HYBRIDIZATION [J].

HARPER, ME ;

SAUNDERS, GF .

CHROMOSOMA, 1981, 83 (03) :431-439

[5] CLONING OF A HUMAN-LIVER MICROSOMAL UDP-GLUCURONOSYLTRANSFERASE CDNA [J].

JACKSON, MR ;

MCCARTHY, LR ;

HARDING, D ;

WILSON, S ;

COUGHTRIE, MWH ;

BURCHELL, B .

BIOCHEMICAL JOURNAL, 1987, 242 (02) :581-588

[6] SPOT-BLOT ANALYSIS OF SORTED CHROMOSOMES ASSIGNS A FRUCTOSE INTOLERANCE DISEASE LOCUS TO CHROMOSOME-9 [J].

LEBO, RV ;

TOLAN, DR ;

BRUCE, BD ;

CHEUNG, MC ;

KAN, YW .

CYTOMETRY, 1985, 6 (05) :478-483

[7] ISOLATION OF GIANT DNA FRAGMENTS FROM FLOW-SORTED HUMAN-CHROMOSOMES [J].

MINOSHIMA, S ;

KAWASAKI, K ;

FUKUYAMA, R ;

MAEKAWA, M ;

KUDOH, J ;

SHIMIZU, N .

CYTOMETRY, 1990, 11 (04) :539-546

[8] ASSIGNMENT OF A MOLECULAR-FORM OF UDP GLUCOSE PYROPHOSPHORYLASE (UGPP2) TO CHROMOSOME-2 IN MAN [J].

SHOWS, TB ;

BROWN, JA ;

GOGGIN, AP ;

HALEY, LL ;

BYERS, MG ;

EDDY, RL .

CYTOGENETICS AND CELL GENETICS, 1978, 22 (1-6) :215-218

[9] DIFFERENTIAL GIEMSA STAINING OF SISTER CHROMATIDS AND STUDY OF SISTER CHROMATID EXCHANGES WITHOUT AUTORADIOGRAPHY [J].

WOLFF, S ;

PERRY, P .

CHROMOSOMA, 1974, 48 (04) :341-353

[10] HIGH-RESOLUTION CHROMOSOMAL LOCALIZATION OF HUMAN GENES FOR AMYLASE, PROOPIOMELANOCORTIN, SOMATOSTATIN, AND A DNA FRAGMENT (D3S1) BY INSITU HYBRIDIZATION [J].

ZABEL, BU ;

NAYLOR, SL ;

SAKAGUCHI, AY ;

BELL, GI ;

SHOWS, TB .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (22) :6932-6936