Jensson O, Palsdottir A, Thorsteinsson L, Arnason A
Blood Bank, National University Hospital, Reykjavik, Iceland.
Clin Genet. 1989 Nov;36(5):368-77. doi: 10.1111/j.1399-0004.1989.tb03215.x.
Firstly, we review investigations of hereditary cystatin C amyloid angiopathy, which is caused by a mutation in the cystatin C gene. Symptoms of brain haemorrhages, which lead to death in young adults, are the hallmark of this disorder. The mutation can now be detected by the RFLP method using Alu I restriction enzyme and cystatin C cDNA probe. Secondly, we give an overview of other clinical genetic studies in Iceland with emphasis on activities initiated or sponsored by the Genetical Committee of the University of Iceland. The list of references covers most publications on genetic studies of Icelanders.
首先，我们回顾了遗传性胱抑素C淀粉样血管病的研究，该病由胱抑素C基因突变引起。脑出血症状是这种疾病的标志，可导致年轻人死亡。现在可以使用Alu I限制酶和胱抑素C cDNA探针通过RFLP方法检测该突变。其次，我们概述了冰岛的其他临床遗传学研究，重点介绍了由冰岛大学遗传学委员会发起或赞助的活动。参考文献列表涵盖了关于冰岛人遗传学研究的大多数出版物。
