一个患有遗传性血清胆碱酯酶缺乏症的家族。

A family with hereditary serum cholinesterase deficiency.

作者信息

Hirasaki S, Koide N, Ujike K, Yamamoto H, Fujita Y, Tanigawa T

机构信息

Department of Internal Medicine, Bizen Hospital.

出版信息

Intern Med. 1995 Jul;34(7):632-5. doi: 10.2169/internalmedicine.34.632.

DOI:10.2169/internalmedicine.34.632

PMID:7496072

Abstract

A family with serum cholinesterase (SChE) deficiency is reported. A 64-year-old woman was admitted for the excision of colon adenoma; her laboratory data revealed a markedly decreased level of SChE. SChE genes of the patient and her family members were amplified by the polymerase chain reaction (PCR) and analyzed by direct sequencing. The patient's SChE gene had a homozygous frame shift mutation, in which an extra adenine was inserted in codon 315 (ACC-->AACC), resulting in the appearance of a new stop codon in codon 322. The family study disclosed that her brother and sister had the same frame shift mutations in homozygote and heterozygote, respectively.

摘要

报道了一个患有血清胆碱酯酶（SChE）缺乏症的家族。一名64岁女性因结肠腺瘤切除术入院；她的实验室数据显示SChE水平显著降低。通过聚合酶链反应（PCR）扩增患者及其家庭成员的SChE基因，并通过直接测序进行分析。患者的SChE基因发生了纯合移码突变，其中在密码子315（ACC→AACC）中插入了一个额外的腺嘌呤，导致在密码子322中出现了一个新的终止密码子。家族研究表明，她的哥哥和姐姐分别在纯合子和杂合子中具有相同的移码突变。