Kestilä Marjo, Ikonen Elina, Lehesjoki Anna-Elina
Duodecim. 2010;126(19):2311-20.
The Finnish disease heritage refers to rare hereditary diseases that occur in the Finnish population in a relatively larger proportion than in other populations. The genes underlying all of the 36 diseases of the disease heritage have been identified. Together with her group and collaborators, Leena Palotie identified 15 of these, and this review includes the description of some of these achievements. As a result of the so-called founder effect, one predominant mutation underlying these diseases occurs in our population, facilitating the diagnostics of these diseases in our country.
芬兰疾病遗传指的是在芬兰人群中出现比例相对高于其他人群的罕见遗传病。该疾病遗传所包含的36种疾病的相关基因均已被确定。Leena Palotie与她的团队及合作者共同确定了其中的15种，本综述涵盖了对其中一些成果的描述。由于所谓的奠基者效应，这些疾病背后的一种主要突变出现在我们的人群中，这便于在我国对这些疾病进行诊断。
