A VARIANT SERUM-CHOLINESTERASE AND A CONFIRMED POINT MUTATION AT GLY-365 TO ARG FOUND IN A PATIENT WITH LIVER-CIRRHOSIS

被引：20

作者：

HADA, T

MURATANI, K

OHUE, T

IMANISHI, H

MORIWAKI, Y

ITOH, M

AMURO, Y

HIGASHINO, K

机构：

[1] From the Third Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya

[2] Department of Internal Medicine, Kinki Central Hospital of the Mutual Aid Association of Public School Teachers, Itami

来源：

INTERNAL MEDICINE | 1992年 / 31卷 / 03期

关键词：

CHOLINESTERASE ISOZYME; NEARLY SILENT CHOLINESTERASE VARIANT; GENE ANALYSIS;

D O I：

10.2169/internalmedicine.31.357

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A 64-year-old man was admitted to our hosiptal because of possible liver cirrhosis. His serum cholinesterase was anomalously low with a DELTA-pH of 0.1 (normal range; 0.8-1.1). His enzyme was more heat-labile than the normal controls. Km value of his enzyme for benzoylcholine was 1.1 x 10(-5)mol/l, while that for normal controls was 2.3 x 10(-6)mol/l. In addition, isozymic alteration of his enzyme was observed. Sequencing of the white blood cell DNA of the patient showed a point mutation at nucleotide 1093 (GGA to CGA), which changes codon 365 from glycine to arginine.

引用

页码：357 / 362

页数：6

共 21 条

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