人丁酰胆碱酯酶L330I突变属于耐氟基因，通过在人胎儿肾细胞中表达获得。

Human butyrylcholinesterase L330I mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells.

作者信息

Sudo K, Maekawa M, Akizuki S, Magara T, Ogasawara H, Tanaka T

机构信息

Department of Laboratory Medicine, Jikei University, Daisan Hospital, Komae City, Japan.

出版信息

Biochem Biophys Res Commun. 1997 Nov 17;240(2):372-5. doi: 10.1006/bbrc.1997.7658.

DOI:10.1006/bbrc.1997.7658

PMID:9388484

Abstract

We noticed a Japanese male showed low serum butyrylcholinesterase (BCHE) activity on health examination. The phenotyping analysis revealed a reduced dibucaine number (DN) and an especially low fluoride number (FN), similar to an FS phenotype. A homozygous missense mutation, a T to A transversion at nucleotide 988, was identified in his BCHE gene. This mutation resulted in the replacement of leucine by isoleucine at codon 330 (L330I). DN and FN of recombinant BCHE(L330I) secreted by human fetal kidney cells were compared to recombinant wild-type(usual gene) BCHE and normal serum BCHE. These results showed this amino acid substitution of BCHE, Leu330 to Ile, really caused the abnormal DN and FN. We conclude that the BCHE L330I mutation is a fluoride-resistant gene, a Japanese type fluoride-resistant gene.

摘要

我们注意到一名日本男性在健康检查时血清丁酰胆碱酯酶（BCHE）活性较低。表型分析显示二丁卡因值（DN）降低，尤其是氟化物值（FN）极低，类似于FS表型。在他的BCHE基因中鉴定出一个纯合错义突变，即核苷酸988处的T到A颠换。该突变导致密码子330处的亮氨酸被异亮氨酸取代（L330I）。将人胎肾细胞分泌的重组BCHE（L330I）的DN和FN与重组野生型（正常基因）BCHE及正常血清BCHE进行比较。这些结果表明BCHE的这种氨基酸取代，即Leu330变为Ile，确实导致了异常的DN和FN。我们得出结论，BCHE L330I突变是一种耐氟基因，一种日本型耐氟基因。