Majumdar R, Al Jumah M, Fraser M
Department of Medicine, King Fahad National Guard Hospital, Riyadh 11426, Saudi Arabia.
Mol Pathol. 2003 Oct;56(5):302-4. doi: 10.1136/mp.56.5.302.
In patients with Wilson's disease (WD), an autosomal recessive disorder, toxic accumulation of copper results in fatal liver disease and irreversible neuronal degeneration. ATP7B, the gene mutated in WD, contains 21 exons and encodes a copper transporting ATPase. A novel disease causing mutation (4193delC) in exon 21 of the ATP7B gene has previously been detected by heteroduplex analysis and DNA sequencing.
To screen for the above mutation in patients with WD and carriers using an amplification refractory mutation system (ARMS).
ARMS was used to screen for the 4193delC mutation in 30 patients with WD and their relatives.
A homozygous mutation was detected in 16 of 30 patients with WD.
This polymerase chain reaction based method, which has been known for years, is a simple, inexpensive, and rapid method for screening common and specific mutations in patients with WD and carriers.
威尔逊病（WD）是一种常染色体隐性疾病，铜的毒性蓄积会导致致命的肝脏疾病和不可逆的神经元变性。WD中发生突变的基因ATP7B包含21个外显子，编码一种铜转运ATP酶。先前已通过异源双链分析和DNA测序在ATP7B基因第21外显子中检测到一种新的致病突变（4193delC）。
使用扩增阻滞突变系统（ARMS）对WD患者及其携带者进行上述突变的筛查。
采用ARMS对30例WD患者及其亲属进行4193delC突变的筛查。
30例WD患者中有16例检测到纯合突变。
这种基于聚合酶链反应的方法已为人所知多年，是一种用于筛查WD患者及其携带者常见和特定突变的简单、廉价且快速的方法。
