Extreme founder effect associated with oculocutaneous albinism type 1 (OCA1) on the island of Nias/Indonesia

The island of Nias/Indonesia shows an extremely reduced genetic diversity indicating a strong founder effect. One such disorder that can easily be ascertained during field research is albinism. All over the island, probands with albino phenotype were screened for OCA mutations. A novel homozygous tyrosinase mutation c.701C>T was identified in all four probands studied from very distinct parts of the island. The observed prevalence was 1 in 3,260. We argue that clinical genetics and mutation mapping can add to the combined power of population genetics, linguistics, and archeology for subsequent studies on the origin and migration of a given population. In our example mutation testing for tyrosinase exchange c.701C>T in probands outside Nias might be helpful in tracing the potential homelands of the Niassians. So far, candidate regions highly suggestive by population genetic and by comparative linguistic studies are Sangir Islands, Philippines and Taiwan.