Daimon M, Kato T, Kawanami T, Tominaga M, Igarashi M, Yamatani K, Sasaki H
Third Department of Internal Medicine, Yamagata University School of Medicine, Japan.
Biochem Biophys Res Commun. 1995 Dec 5;217(1):89-95. doi: 10.1006/bbrc.1995.2749.
A novel mutation of the ceruloplasmin (Cp) gene was found in a patient with hereditary ceruloplasmin deficiency (HCD) with diabetes mellitus (DM). The patient had been treated for DM for about 13 years, and then his illness was diagnosed as HCD. One year later, he was found dead in his home. A decrease in insulin-immunostained cells was observed in the islets of the patient's pancreas tissue, which accounted for his DM. The polymerase chain reaction (PCR)-direct sequencing analysis of the Cp gene of his daughter revealed a novel point mutation, G to A, at nucleotide 2630 in exon 15. This mutation changes the Trp858 codon (TGG) to a stop codon (TAG) (nonsense mutation). PCR-restriction analysis for the mutation revealed that the patient as well as his daughter was a heterozygote for the mutation, indicating that the patient was a compound heterozygote.
在一名患有遗传性铜蓝蛋白缺乏症（HCD）且伴有糖尿病（DM）的患者中发现了铜蓝蛋白（Cp）基因的一种新突变。该患者已接受糖尿病治疗约13年，之后其病情被诊断为HCD。一年后，他被发现死于家中。在患者胰腺组织的胰岛中观察到胰岛素免疫染色细胞减少，这是其患糖尿病的原因。对其女儿的Cp基因进行聚合酶链反应（PCR）直接测序分析发现，外显子15中第2630位核苷酸处有一个新的点突变，即从G突变为A。该突变将色氨酸858密码子（TGG）变为终止密码子（TAG）（无义突变）。针对该突变的PCR限制性分析表明，患者及其女儿均为该突变的杂合子，这表明该患者为复合杂合子。
