Paper short abstract:

We have recently shown that very different disciplines such as oral tradition, genetics, archeology, and linguistics allow characterizing specific human communities in time and space. Interestingly, also clinical genetics of current populations can throw light on populations in the past.

Paper long abstract:

The island of Nias is unique in terms of culture, architecture, language, and genetics. Findings by very different approaches are remarkably uniform regarding time and place of settling, replacement of the ancestral population, and extreme expansion. Such an extreme population bottleneck has almost always consequences on clinical genetics. Inborn disease(s) transmitted by the founder(s) should be very common in the descendents. As monogenic disorders are easy to study we performed a systematic clinical population screening. So far we could show that the prevalence of albinism, gout and type V hyperlipoproteinemia is an order of magnitude higher than in populations outside the island of Nias. By detailed family history all our probands e.g. with albinism are not directly related for at least more than 25 generations. Yet, all of them show the identical homozygous mutations pointing to a common ancestor and because of the high prevalence in all subpopulations of Nias to a small founder population. This is fully compatible with all our other findings. This mutation - not listed in genetic databases - is obviously (very) rare and therefore extremely helpful to delineate putative forefathers and their route to the island of Nias. Our previous population genetic data fit best with a migration route out of Taiwan via the Philippines. But many alternative origins on Island Southeast Asia are also possible. As some linguistic similarities point to Sangir speaking populations on islands between Philippines and Sulawesi these people are good candidates for selective mutation screening.