Park Hyung-Doo, Park Hyun-Kyung, Chung Hae-Sun, Lee Soo-Youn, Kim Jong-Won, Ki Chang-Seok
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Ann Clin Lab Sci. 2010 Winter;40(1):15-9.
Wilson disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B gene, yet many patients have either one mutation, or no mutation. We investigated whether the mutation detection rate is associated with any biochemical characteristics of WD. In a study of 71 patients, we used PCR-sequencing to screen for ATP7B mutations in 7 exons (exons 8, 10, 11, 14, 15, 16, and 18) covering 95% of known mutations in Korean patients with WD. We also investigated serum concentrations of various biochemical analytes. Data were analyzed by linear association test and one-way ANOVA. Based on the number of detected ATP7B mutations, a significant difference in serum ceruloplasmin concentration was found among the 3 groups (p <0.001). Serum ceruloplasmin concentration averaged 3.32 +/- 1.74, 10.8 +/- 5.50, and 14.9 +/- 3.88 mg/dl (mean +/- SD) in the 25, 20, and 26 patients with two, one, and no ATP7B mutations, respectively. We observed 82.9% and 16.7% of mutant allele frequency in WD patients with ceruloplasmin concentration <10 mg/dl and 10-20 mg/dl, respectively (p <0.001). Thus serum ceruloplasmin concentrations among WD patients differed according to the number of ATP7B mutations detected.
威尔逊病（WD）是一种由ATP7B基因突变引起的常染色体隐性疾病，但许多患者要么有一个突变，要么没有突变。我们研究了突变检测率是否与WD的任何生化特征相关。在一项对71名患者的研究中，我们使用聚合酶链反应测序法（PCR-sequencing）筛查了7个外显子（外显子8、10、11、14、15、16和18）中的ATP7B突变，这些外显子涵盖了韩国WD患者中95%的已知突变。我们还研究了各种生化分析物的血清浓度。数据通过线性关联检验和单因素方差分析进行分析。基于检测到的ATP7B突变数量，在3组患者中发现血清铜蓝蛋白浓度存在显著差异（p<0.001）。在分别有两个、一个和没有ATP7B突变的25名、20名和26名患者中，血清铜蓝蛋白浓度平均分别为3.32±1.74、10.8±5.50和14.9±3.88mg/dl（平均值±标准差）。我们观察到，血清铜蓝蛋白浓度<10mg/dl和10 - 20mg/dl的WD患者中，突变等位基因频率分别为82.9%和16.7%（p<0.001）。因此，WD患者的血清铜蓝蛋白浓度根据检测到的ATP7B突变数量而有所不同。
