Inadera H, Hibino A, Kobayashi J, Kanzaki T, Shirai K, Yukawa S, Saito Y, Yoshida S
Second Department of Internal Medicine, School of Medicine, Chiba University, Japan.
Biochem Biophys Res Commun. 1993 Jun 30;193(3):1174-83. doi: 10.1006/bbrc.1993.1749.
We studied the molecular basis of a case of apolipoprotein CII (apo CII) deficiency with a history of familial consanguinity. DNA sequence analysis of the apo CII gene from the patient revealed a homozygous nucleotide change: a T-->C transition for codon 26 (TGG) at nucleotide 2967 of the third exon resulting in a Trp26-->Arg substitution. His mother was heterozygous of the same mutation and showed half the value of normal apo CII/apo CIII. Analysis of his brother who showed the normal apo CII concentration revealed no mutation at the same place. These results suggested that this missense mutation could be the cause of apo CII deficiency in this kindred.
我们研究了一例有家族近亲通婚史的载脂蛋白CII（apo CII）缺乏症患者的分子基础。对该患者的apo CII基因进行DNA序列分析，发现了一个纯合核苷酸变化：第三外显子第2967位核苷酸处密码子26（TGG）的T→C转换，导致Trp26→Arg替代。他的母亲是该突变的杂合子，其apo CII/apo CIII值为正常的一半。对其apo CII浓度正常的哥哥进行分析，发现在同一位置没有突变。这些结果表明，这种错义突变可能是该家族apo CII缺乏症的病因。
