Tarnacka B, Gromadzka G, Rodo M, Mierzejewski P, Czloonkowska A
2nd Neurological Department, Institute of Psychiatry and Neurology, Warsaw, Poland.
Eur J Neurol. 2000 Sep;7(5):495-8. doi: 10.1046/j.1468-1331.2000.t01-1-00112.x.
Wilson's disease is an autosomal recessive disorder. More than 60 mutations of the Wilson's disease gene have been described so far. We have analysed 148 Polish Wilson's disease patients from 95 families for His1069Gln and Gly1267Lys mutations and correlated this finding with age and clinical form of the disease at presentation. To identify these mutations, single strand conformation polymorphism analysis was performed. In our group there were 94 patients with neurological presentation, 28 with hepatic presentation, whilst 26 were in a pre-clinical stage of the disease. His1069Gln mutation was present on 171 (57%) of the 296 studied chromosomes, and Gly1267Lys mutation was present on 27 chromosomes (9.1%). Most of our patients were homozygous or heterozygous for His1069Gln mutation (39.9% and 30.4%, respectively); 4% of the patients were homozygous for Gly1267Lys mutation and 5.4% had both of these described mutations on their chromosomes. His1069Gln and Gly1267Lys mutations occurred often in our Wilson's disease patient population but we did not find any relationship between investigated mutations and the clinical form of Wilson's disease or age of first symptoms.
威尔逊病是一种常染色体隐性疾病。迄今为止，已发现威尔逊病基因有60多种突变。我们分析了来自95个家庭的148例波兰威尔逊病患者的His1069Gln和Gly1267Lys突变情况，并将这一发现与疾病初发时的年龄及临床类型进行了关联分析。为鉴定这些突变，我们进行了单链构象多态性分析。在我们的研究组中，有94例患者表现为神经症状，28例表现为肝脏症状，26例处于疾病的临床前期。在所研究的296条染色体中，171条（57%）存在His1069Gln突变，27条染色体（9.1%）存在Gly1267Lys突变。我们的大多数患者His1069Gln突变呈纯合或杂合状态（分别为39.9%和30.4%）；4%的患者Gly1267Lys突变为纯合状态，5.4%的患者染色体上同时存在上述两种突变。His1069Gln和Gly1267Lys突变在我们的威尔逊病患者群体中较为常见，但我们并未发现所研究的突变与威尔逊病的临床类型或首发症状的年龄之间存在任何关联。
