Studies on the gene analysis of patients with Menkes disease and Wilson's disease

门克斯病和威尔逊病的致病基因分别是ATP7A和ATP7B。我们分析了22例Menkes病和10例Wilson病的负责基因突变。在3例Menkes病患者和2例Wilsn病患者中发现了相关基因编码区突变。对两种疾病的相关基因均无突变的患者进行铜伴侣蛋白基因和两种疾病相关基因启动子基因的分析。一位威尔逊氏病患者被怀疑在ATP7B基因的启动子区域有突变。

The responsible gene for Menkes disease and Wilson's disease are ATP7A and ATP7B, respectively. We analyzed the gene mutations in the responsible gene in 22 patients with Menkes disease and 10 patients with Wilson disease. Mutations in coding regions of the responsible gene were identified in 3 patients with Menkes disease and 2 patients with Wilsn's disease. The gene of copper-chaperon proteins and the promoter genes of the responsible gene for the both disease were analyzed in patients with the both diseases who have no mutation in the responsible genes. A patient with Wilson's disease was suspected to have a mutation in the promoter region in the ATP7B gene.