摘要
AIM： To analyze our Wilson disease patient cohort （n = 106） for alterations in the gene coding for MURR1. METHODS： Patients with an established diagnosis of Wilson disease but normal ceruloplasmin blood levels were chosen for our study （n = 14）. Patients with two known disease-causing mutations in the ATPTB gene were not included. The three exons of the human MURR1 gene were sequenced after amplification of the genomic DNA by polymerase chain reaction. RESULTS： Our study did not reveal any mutations leading to an amino acid change in the MURR1 sequence of Wilson disease patients. A polymorphism at 472 bp of the coding sequence could be confirmed. CONCLUSION： The MURRI gene plays no role in the pathogenesis of Wilson disease patients with normal serum ceruloplasmin levels.
瞄准：在为 MURR1 编码的基因为改变分析我们的威尔森疾病病人队(n=106 ) 。方法：有威尔森疾病的确定的诊断的病人但是正常血浆铜蓝蛋白血层次为我们的学习被选择(n = 14 ) 。有在 ATP7B 基因的二个已知的引起疾病的变化的病人没被包括。人的 MURR1 基因的三前 ons 被聚合酶链反应在 genomic DNA 的扩大以后定序。结果：我们的学习没揭示在威尔森疾病病人的 MURR1 顺序导致一个氨基酸变化的任何变化。在编码顺序的 472 bp 的多型性能被证实。结论：MURR1 基因不与正常浆液血浆铜蓝蛋白层次在威尔森疾病病人的致病起作用。
