Daimon M, Susa S, Ohizumi T, Moriai S, Kawanami T, Hirata A, Yamaguchi H, Ohnuma H, Igarashi M, Kato T
The Third Department of Internal Medicine, Yamagata University School of Medicine, Japan.
Tohoku J Exp Med. 2000 Jul;191(3):119-25. doi: 10.1620/tjem.191.119.
We found a novel missense mutation in the ceruloplasmin (Cp) gene in a patient with the heteroallelic Cp gene mutation (HypoCPGM). The patient was a 72-year-old woman who came to our hospital with a 1-year history of postural tremor of the hands. The diagnosis was made based on serum Cp and copper readings which were about half the normal levels, as well as MRI tests of her brain which showed characteristics for hereditary ceruloplasmin deficiency (HCD), known to be caused by the homoallelic Cp gene mutation. Polymerase chain reaction (PCR)-direct sequencing analysis of the Cp gene of the patient revealed a novel point mutation, A to T, at nucleotide position 82 in Exon 1. This mutation changes the Ile28 codon (ATT) to a Phe codon (TTT) (missense mutation). PCR-restriction analysis with restriction enzyme Tsp EI for the mutation revealed that both the patient and her son were heterozygotes for the mutation.
我们在一名患有杂合等位基因铜蓝蛋白基因突变（HypoCPGM）的患者中发现了铜蓝蛋白（Cp）基因的一种新型错义突变。该患者是一名72岁女性，因手部姿势性震颤1年前来我院就诊。诊断依据血清Cp和铜读数约为正常水平的一半，以及脑部MRI检查显示出遗传性铜蓝蛋白缺乏症（HCD）的特征，已知该疾病由纯合等位基因Cp基因突变引起。对该患者的Cp基因进行聚合酶链反应（PCR）直接测序分析，发现在外显子1的核苷酸位置82处有一个新的点突变，由A变为T。此突变将Ile28密码子（ATT）变为Phe密码子（TTT）（错义突变）。用限制性内切酶Tsp EI对该突变进行PCR-限制性分析表明，患者及其儿子均为该突变的杂合子。
