TY  - JOUR
AB  - 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.
AU  - Kennerknecht, Ingo
AU  - Zühlke, Christine
AU  - Hämmerle, Johannes M.
DA  - 2021
DO  - 10.17879/18049589776
KW  - oculocutaneous albinism type 1
KW  - OCA1
KW  - tyrosinase c.701C>T
KW  - founder effect
KW  - island of Nias
KW  - population genetic
KW  - population bottleneck
LA  - eng
PY  - 2021
TI  - Extreme founder effect associated with oculocutaneous albinism type 1 (OCA1) on the island of Nias/Indonesia: How clinical genetics may help population genetics
UR  - https://nbn-resolving.org/urn:nbn:de:hbz:6-18049590714
Y2  - 2024-11-21T19:51:21
ER  -