Department of Medical Biochemistry, Rikshospitalet, Oslo University Hospital, University of Oslo, Norway.
Scand J Clin Lab Invest. 2012 Sep;72(5):369-73. doi: 10.3109/00365513.2012.676210. Epub 2012 May 4.
A total of 28 Norwegians have been diagnosed with hereditary tyrosinaemia type I (HT1) over the last 30 years. In this study, 19 of these patients were investigated. Three novel small deletions were found (NM_000137.1(FAH): c.615delT, p.Phe205LeufsX2, NM_000137.1(FAH): c.744delG, p.Pro249HisfsX55 and NM_000137.1(FAH):c835delC) pGln279ArgfsX25, all of them leading to a change in the reading frame and a premature stop codon. We hereby genetically characterized 51 of the 56 disease-causing alleles, identifying nine different disease-causing mutations in the Norwegian population. We found that 65% of the Norwegian HT1 patients are compound heterozygous for different mutations. Thus, the relatively high incidence of HT1 in Norway of 1 in 74,800 live births is not due to single founder effects or high incidence of parental consanguinity.
在过去的 30 年中，共有 28 名挪威人被诊断患有遗传性酪氨酸血症 I 型（HT1）。在这项研究中，对其中的 19 名患者进行了调查。发现了三个新的小缺失（NM_000137.1(FAH)：c.615delT，p.Phe205LeufsX2，NM_000137.1(FAH)：c.744delG，p.Pro249HisfsX55 和 NM_000137.1(FAH)：c835delC）pGln279ArgfsX25，它们都导致阅读框发生改变并产生提前终止密码子。我们通过基因特征分析了 56 个致病等位基因中的 51 个，在挪威人群中确定了 9 种不同的致病突变。我们发现，65%的挪威 HT1 患者是不同突变的复合杂合子。因此，挪威相对较高的 HT1 发病率（每 74800 例活产儿中有 1 例）并非由于单一的创始人效应或高比例的近亲婚配。
