Founder mutations among the Dutch
Maurice P. Zeegers|F.W.A. van Poppel|Robert Vlietinck|Liesbeth Spruijt|Harry Ostrer
Many genetic disorders demonstrate mutations that can be traced to a founder, sometimes person who identified. These founder have generated considerable interest, because they facilitate studies of prevalence and penetrance used quantify the degree homogeneity within population. This paper reports on among Dutch relates their occurrence history demography Netherlands. International migration, regional religious endogamy, rapid population growth played key roles in shaping In first millenniums BC AD, Netherlands were invaded by Celts, Romans, Huns, Germans. more recent times, large numbers Huguenots Germans migrated into Population was slow until 19th century, when period started. Today, 16 million inhabitants. Several different classes been identified Dutch. Some occur people represent isolates this country. include for benign familial cholestasis, diabetes mellitus, type I, infantile neuronal ceroid lipofuscinosis, L-DOPA responsive dystonia, triphalangeal thumb. Although not related specific isolate, other only Netherlands, including those predisposing hereditary breast-ovarian cancer, hypercholesterolemia, frontotemporal dementia, paragangliomas, juvenile malignant melanoma, protein C deficiency, San Filippo disease. these show distribution, suggesting dissemination from founder. are shared with European populations others transmitted émigrés descendents North America South Africa. The short chromosomal regions remained identical descent has resulted relatively limited heterogeneity many conditions observations opportunity gene discovery diseases traits
European Journal of Human Genetics|PubMed