Peltonen L
Department of Human Molecular Genetics, University of Helsinki, National Public Health Institute, Finland.
Ann Med. 1997 Dec;29(6):553-6. doi: 10.3109/07853899709007481.
Finland has a population with a history revealing features of founder effect, genetic drift and isolation. Relatively small founder populations have slowly inhabited a large country and internal isolates have developed within Finland. This is reflected even today in the regional enrichment of some diseases belonging to the Finnish disease heritage. This concept was launched before the DNA era by skillful clinicians and today it comprises some 30 diseases with a wide variety of clinical phenotypes. Special strategies have been adapted in the initial locus assignment and in the restriction of the critical chromosomal DNA region having so far resulted in the successful isolation of 11 disease genes. Detailed analyses of these disease genes and their function have provided new insights into the structure and function of defective proteins as well as into the biology of affected tissues.
芬兰人口的历史呈现出奠基者效应、基因漂变和隔离的特征。相对较小的奠基者群体逐渐在这个大国定居下来，芬兰国内也形成了一些隔离群体。即便在今天，这一点仍体现在属于芬兰疾病遗传范畴的某些疾病在区域上的富集。这一概念是由技艺精湛的临床医生在DNA时代之前提出的，如今它涵盖了约30种具有广泛临床表型的疾病。在最初的基因定位以及关键染色体DNA区域的限定方面采用了特殊策略，目前已成功分离出11个疾病基因。对这些疾病基因及其功能的详细分析，为缺陷蛋白的结构和功能以及受影响组织的生物学特性提供了新的见解。
