Tsai C H, Tsai F J, Wu J Y, Chang J G, Lee C C, Lin S P, Yang C F, Jong Y J, Lo M C
Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan.
Hum Mutat. 1998;12(6):370-6. doi: 10.1002/(SICI)1098-1004(1998)12:6<370::AID-HUMU2>3.0.CO;2-S.
Wilson disease is an autosomal recessive disorder of copper metabolism. Mutation screening in Wilson disease has led to the detection of at least 89 disease-specific mutations. Some mutations appear to be population specific, while others are common to many populations. In this study, 38 Taiwanese patients with Wilson disease were screened using single-strand conformation polymorphism analysis, followed by direct DNA sequencing. We found 12 different mutations, six of which were novel. All our detected mutations were found to be in eight exons. Four mutations in three loci (Arg778Gln, Arg778Leu, Gly943Asp, and Pro992Leu) accounted for about 58% of the mutant alleles we detected. Using an RNA transcriptional assay, we confirmed that both of our detected splice-site mutations resulted in exon skipping.
威尔逊病是一种常染色体隐性铜代谢紊乱疾病。对威尔逊病进行的突变筛查已检测到至少89种疾病特异性突变。一些突变似乎具有人群特异性，而其他一些突变在许多人群中较为常见。在本研究中，采用单链构象多态性分析，随后进行直接DNA测序，对38名台湾威尔逊病患者进行了筛查。我们发现了12种不同的突变，其中6种是新发现的。我们检测到的所有突变均位于8个外显子中。三个位点（Arg778Gln、Arg778Leu、Gly943Asp和Pro992Leu）的四个突变约占我们检测到的突变等位基因的58%。通过RNA转录分析，我们证实检测到的两种剪接位点突变均导致外显子跳跃。
