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ATP 7A和ATP 7B。我们分析了22例Menkes病和10例Wilson病患者的责任基因的基因突变。在3名Menkes病患者和2名Wilsn病患者中鉴定了责任基因编码区的突变。对无致病基因突变的两种疾病患者的铜伴侣蛋白基因和致病基因启动子基因进行分析。一名威尔逊病患者被怀疑在ATP 7B基因的启动子区发生突变。

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.