Kääriäinen Helena, Muilu Juha, Perola Markus, Kristiansson Kati
National Institute for Health and Welfare, Helsinki, Finland.
Institute for Molecular Medicine, Finland (FIMM), Technology Centre, University of Helsinki, Helsinki, Finland.
J Community Genet. 2017 Oct;8(4):319-326. doi: 10.1007/s12687-017-0318-4. Epub 2017 Jul 20.
A unique genetic background in an isolated population like that of Finland offers special opportunities for genetic research as well as for applying the genetic developments to the health care. On the other hand, the different genetic background may require local attempts to develop diagnostics and treatment as the selection of diseases and mutations differs from that in the other populations. In this review, we describe the experiences of research and health care in this genetic isolate starting from the identification of specific monogenic diseases enriched in the Finnish population all the way to implementing the knowledge of the unique genetic background to genomic medicine at population level.
像芬兰这样的孤立人群所具有的独特遗传背景，为基因研究以及将基因研究成果应用于医疗保健提供了特殊机遇。另一方面，由于疾病和突变的选择与其他人群不同，不同的遗传背景可能需要在当地进行诊断和治疗方面的探索。在本综述中，我们描述了在这个遗传孤立人群中的研究和医疗保健经验，从识别芬兰人群中富集的特定单基因疾病开始，一直到在人群层面将独特遗传背景的知识应用于基因组医学。
