MOLECULAR ABNORMALITY OF A UNIQUE JAPANESE GLUCOSE-6-PHOSPHATE-DEHYDROGENASE VARIANT (G6PD KOBE) WITH A GREATLY INCREASED AFFINITY FOR GALACTOSE-6-PHOSPHATE

被引：12

作者：

HIRONO, A

NAKAYAMA, S

FUJII, H

MIWA, S

机构：

[1] KOBE MUNICIPAL CTR HOSP,DEPT MED,KOBE,JAPAN

[2] TOKYO WOMENS MED COLL,DEPT BLOOD TRANSFUS MED,TOKYO,TOKYO,JAPAN

来源：

AMERICAN JOURNAL OF HEMATOLOGY | 1994年 / 45卷 / 02期

关键词：

G6PD DEFICIENCY; MUTATION; VARIANT; HEMOLYTIC ANEMIA;

D O I：

10.1002/ajh.2830450217

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Systematic molecular analysis of a Japanese class 1 glucose-6-phosphate dehydrogenase (G6PD) variant (GGPD Kobe) cDNA revealed a unique nucleotide substitution(1318 C to T) in exon 11, which predicts a substitution of leucine for phenylalanine at residue 440. This substitution is located in a region surrounding the putative structural NADP-binding domain. The markedly abnormal kinetics of glucose-g-phosphate (G6P) of GGPD Kobe suggest the interaction between both NADP and G6P binding sites. (C) 1994 Wiley-Liss, Inc.

引用

收藏

页码：185 / 186

页数：2

相关论文

共 10 条

[1] GENETIC-VARIATION OF GLUCOSE-6-PHOSPHATE-DEHYDROGENASE - A CATALOG AND FUTURE-PROSPECTS [J].

BEUTLER, E ;

YOSHIDA, A .

MEDICINE, 1988, 67 (05) :311-334

[2]

BEUTLER E, 1991, J BIOL CHEM, V266, P4145

[3]

BEUTLER E, 1991, NEW ENGL J MED, V324, P169

[4] MOLECULAR-BASIS OF CHRONIC NON-SPHEROCYTIC HEMOLYTIC-ANEMIA - A NEW G6PD VARIANT (393 ARG-]HIS) WITH ABNORMAL KMG6P AND MARKED INVIVO INSTABILITY [J].

FILOSA, S ;

CALABRO, V ;

VALLONE, D ;

POGGI, V ;

MASON, P ;

PAGNINI, D ;

ALFINITO, F ;

ROTOLI, B ;

MARTINI, G ;

LUZZATTO, L ;

BATTISTUZZI, G .

BRITISH JOURNAL OF HAEMATOLOGY, 1992, 80 (01) :111-116

[5] GLUCOSE-6-PHOSPHATE-DEHYDROGENASE VARIANTS - A UNIQUE VARIANT (G6PD-KOBE) SHOWED AN EXTREMELY INCREASED AFFINITY FOR GALACTOSE 6-PHOSPHATE AND A NEW VARIANT (G6PD-SAPPORO) RESEMBLING G6PD PEA RIDGE [J].

FUJII, H ;

MIWA, S ;

TANI, K ;

TAKEGAWA, S ;

FUJINAMI, N ;

TAKAHASHI, K ;

NAKAYAMA, S ;

KONNO, M ;

SATO, T .

HUMAN GENETICS, 1981, 58 (04) :405-407

[6]

HIRONO A, 1993, HUM GENET, V91, P507

[7]

HIRONO A, 1993, HAEMATOLOGIA, V25, P85

[8] CDNA CLONING OF HUMAN R-TYPE PYRUVATE-KINASE AND IDENTIFICATION OF A SINGLE AMINO-ACID SUBSTITUTION (THR384-]MET) AFFECTING ENZYMATIC STABILITY IN A PYRUVATE-KINASE VARIANT (PK TOKYO) ASSOCIATED WITH HEREDITARY HEMOLYTIC-ANEMIA [J].

KANNO, H ;

FUJII, H ;

HIRONO, A ;

MIWA, S .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (18) :8218-8221

[9] PRIMER-DIRECTED ENZYMATIC AMPLIFICATION OF DNA WITH A THERMOSTABLE DNA-POLYMERASE [J].

SAIKI, RK ;

GELFAND, DH ;

STOFFEL, S ;

SCHARF, SJ ;

HIGUCHI, R ;

HORN, GT ;

MULLIS, KB ;

ERLICH, HA .

SCIENCE, 1988, 239 (4839) :487-491

[10] DNA SEQUENCING WITH CHAIN-TERMINATING INHIBITORS [J].

SANGER, F ;

NICKLEN, S ;

COULSON, AR .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1977, 74 (12) :5463-5467