Haas R, Gutierrez-Rivero B, Knoche J, Böker K, Manns M P, Schmidt H H
Abteilung Gastroenterologie und Hepatologie, Medizinische Hochschule Hannover, Germany.
Hum Mutat. 1999;14(1):88. doi: 10.1002/(SICI)1098-1004(1999)14:1<88::AID-HUMU15>3.0.CO;2-H.
In order to obtain novel mutations in the recently discovered Wilson disease gene, we screened 5 unrelated German individuals for mutations in the 21 exons and their flanking intronic sequences. We detected 9 mutations affecting the Wilson disease gene. Four of those, designated 802-808delTGTAAGT, 2008-2013delTATATG, Cys985Thr, and Ile1148Thr have not yet been reported. One patient had a homozygous mutation whereas the remaining four subjects were compound heterozygous. Therefore these data confirm, that mutations causing Wilson disease are frequently found in affected subjects and they are very heterogenous.
为了在最近发现的威尔逊病基因中获得新的突变，我们对5名无亲缘关系的德国个体的21个外显子及其侧翼内含子序列进行了突变筛查。我们检测到9个影响威尔逊病基因的突变。其中4个，即802 - 808delTGTAAGT、2008 - 2013delTATATG、Cys985Thr和Ile1148Thr尚未见报道。1例患者为纯合突变，其余4例为复合杂合突变。因此，这些数据证实，导致威尔逊病的突变在受影响的个体中经常被发现，而且它们非常具有异质性。
