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[圣地亚哥东部人群中的血清丁酰胆碱酯酶变体]

[Serum butyrylcholinesterase variants in eastern Santiago population].

作者信息

Acuña M, Martínez M

机构信息

Departamento de Biología Celular y Genética, Facultad de Medicina, Universidad de Chile.

出版信息

Rev Med Chil. 1996 Sep;124(9):1045-51.

PMID:9197017
Abstract

BACKGROUND

Succinylcholine causes prolonged apneas in a proportion if subjects that have genetical defect of butyrylcholinesterase, due to the presence of unusual alleles in the locus BCHE.

AIM

To estimate allele frequencies of three variants of serum butyrylcholinesterase, BCHEU, BCHEA and BCHE*F in an urban population of Santiago, Chile.

SUBJECTS AND METHODS

Different phenotypes for the locus BCHE were determined in 300 blood samples coming from patients of a private clinical laboratory. The population was formed by an admixture of Amerindian and European (mostly Spanish) people.

RESULTS

The frequency of BCHEA was similar to that expected for this population, but BCHEF frequency was greater than predicted. Eight subjects had the genotype BCHE AK.

CONCLUSIONS

The higher frequency found for BCHE*F is probably due to the use of more precise detection techniques. Although the used method cannot distinguish BCHE UK from BCHE UU, the finding of individuals with BCHE AK, must lead to the suspicion that the frequency of the allele BCHE K is not negligible in Santiago.

摘要

背景

由于丁酰胆碱酯酶基因座BCHE中存在异常等位基因,琥珀酰胆碱会使一部分有丁酰胆碱酯酶基因缺陷的受试者出现呼吸暂停时间延长的情况。

目的

估计智利圣地亚哥城市人群中血清丁酰胆碱酯酶三种变体BCHEU、BCHEA和BCHE*F的等位基因频率。

受试者与方法

在一家私立临床实验室的300份患者血样中确定了BCHE基因座的不同表型。该人群由美洲印第安人和欧洲人(主要是西班牙人)混合组成。

结果

BCHEA的频率与该人群的预期频率相似,但BCHEF的频率高于预测值。8名受试者具有BCHE AK基因型。

结论

BCHE*F出现较高频率可能是由于使用了更精确的检测技术。尽管所采用的方法无法区分BCHE UK和BCHE UU,但发现有BCHE AK个体,必然会让人怀疑BCHE K等位基因在圣地亚哥的频率不可忽略。

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