Wu Z, Wang N, Murong S, Ruan X
Institute of Neurological Sciences, Department of Neurology, First Affiliated Hospital of Fujian Medical University, Fujian 350005.
J Tongji Med Univ. 1999;19(1):50-2, 65. doi: 10.1007/BF02895596.
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. To establish an efficient, accurate and fast diagnostic method for carrier detection and presymptomatic identification of WD in Chinese population, we studied haplotypes of short tandem repeat (STR) polymorphisms flanking the WD gene in 40 Chinese WD families. The results suggested that this genetic diagnosis system based on the four STR polymorphisms is of high value for the detection of potential carriers and WD homozygotes in families with at least one previously affected child. It is an efficient, accurate and fast diagnostic method that can be well suited for routine use in clinical laboratories.
威尔逊病（WD）是一种常染色体隐性铜代谢紊乱疾病。为建立一种高效、准确且快速的诊断方法，用于中国人群中WD携带者检测和症状前诊断，我们研究了40个中国WD家系中WD基因侧翼短串联重复序列（STR）多态性的单倍型。结果表明，基于这四种STR多态性的基因诊断系统对于在至少有一名先前患病儿童的家庭中检测潜在携带者和WD纯合子具有很高价值。它是一种高效、准确且快速的诊断方法，非常适合临床实验室常规使用。
