The genetic make-up of genetically isolated populations may differ from a general population as a result of genetic drift and founder effects. We assessed the extent of this deviation in a recently isolated population located in the southwest of the Netherlands and studied as part of the Genetic Research in Isolated Population (GRIP) program. A gene-dropping experiment was performed in a large pedigree from this isolate, assuming different initial frequencies in the population founders came from. Allelic frequencies in the last generations of this pedigree were estimated. Simulation analysis showed large fluctuations, as measured by variation coefficient and sufficient loss probability, when initial frequencies were lower than or equal to 1%. For initial frequencies larger than 1% the fluctuations were small. We also analyzed mean heterozygosity and allele diversity of 592 markers in a random sample from the GRIP population. The results were compared with a general population (CEPH sample), old large isolate (Icelandic sample) and the small-sized population of Talana (Sardinia). GRIP mean heterozygosity and mean number of alleles were significantly lower as compared with CEPH and Iceland, but much higher when compared with the Talana population. We also concluded that the findings from the GRIP population for common variants (> 1%) are likely to be extendable to other young isolates in Europe as well as to outbred populations.,
Annals of Human Genetics
Department of Clinical Genetics

Pardo Cortes, L., Mackay, I., Oostra, B., van Duijn, C., & Aulchenko, Y. (2005). The effect of genetic drift in a young genetically isolated population. Annals of Human Genetics, 69(3), 288–295. doi:10.1046/j.1529-8817.2005.00162.x