血浆胆碱酯酶Ek1Ek1纯合子的识别。

Recognition of the Ek1Ek1 homozygote for plasma cholinesterase.

作者信息

Whittaker M, Britten J J

机构信息

Department of Environmental Science, Polytechnic South West, Plymouth, UK.

出版信息

Hum Hered. 1990;40(4):247-9. doi: 10.1159/000153938.

DOI:10.1159/000153938

PMID:2379931

Abstract

A family is reported in which the propositus was found to be sensitive to suxamethonium. Both parents were heterozygote each having genotype Ea1Ek1. The sibling of the propositus had the most common phenotype as defined by dibucaine, fluoride and RO2 numbers. Genetic analysis, however, indicated that this sibling must be an Ek1Ek1 homozygote.

摘要

据报道，有一个家系，其中先证者被发现对琥珀胆碱敏感。父母双方均为杂合子，基因型均为Ea1Ek1。先证者的同胞具有由丁卡因、氟化物和RO2数值定义的最常见表型。然而，基因分析表明，这个同胞必定是Ek1Ek1纯合子。