两种载脂蛋白变体的鉴定，即载脂蛋白A-I 唐津型（酪氨酸100→组氨酸）和载脂蛋白A-I 久留米型（组氨酸162→谷氨酰胺）。

Identification of two apolipoprotein variants, A-I Karatsu (Tyr 100-->His) and A-I Kurume (His 162-->Gln).

作者信息

Moriyama K, Sasaki J, Matsunaga A, Takada Y, Kagimoto M, Arakawa K

机构信息

Department of Internal Medicine, Fukuoka University, School of Medicine, Japan.

出版信息

Clin Genet. 1996 Feb;49(2):79-84. doi: 10.1111/j.1399-0004.1996.tb04332.x.

DOI:10.1111/j.1399-0004.1996.tb04332.x

PMID:8740917

Abstract

We identified two apolipoprotein (apo) A-I variants, using isoelectric focusing gel electrophoresis: apo A-I Karatsu, which had a relative charge of +1 compared to normal apo A-I4, and apo A-I Kurume, which had a relative charge of -1. Direct sequence analysis of the PCR-amplified DNA from the proband of apo A-I Karatsu revealed a single substitution of tyrosine (TAC) for histidine (CAC) at position 100. Sequence analysis of apo A-I Kurume revealed a single substitution of histidine (CAT) for glutamine (CAG) at position 162. Probands of these two mutants and limited family study showed no accelerated atherosclerosis.

摘要

我们采用等电聚焦凝胶电泳法鉴定出两种载脂蛋白（apo）A-I变体：apo A-I Karatsu，与正常apo A-I4相比，其相对电荷为+1；apo A-I Kurume，其相对电荷为-1。对apo A-I Karatsu先证者的PCR扩增DNA进行直接序列分析，结果显示在第100位存在单个酪氨酸（TAC）替代组氨酸（CAC）的情况。对apo A-I Kurume的序列分析显示在第162位存在单个组氨酸（CAT）替代谷氨酰胺（CAG）的情况。这两种突变体的先证者及有限的家系研究均未显示动脉粥样硬化加速。