Molecular analysis of mutations and polymorphisms of the Lewis secretor type alpha(1,2)-fucosyltransferase gene reveals that Taiwan aborigines are of Austronesian derivation.

The origins of the Taiwan aborigines have not been fully resolved. Anthropological and linguistic studies have indicated that their ancestry is mainly Austronesian or Malayopolynesian. Some polymorphisms and mutations in the secretor type alpha(1,2)-fucosyltransferase (FUT2) gene are found in Taiwan aborigines. In this study, we analyzed the frequency of eight mutations and one polymorphism of the FUT2 gene in Taiwan aborigines and other ethnic groups in order to explore the origins of these groups. The results showed that the C302T, G428A, and fusion gene mutations were specific for Thai, Caucasians, and Japanese, respectively. The A385T mutation was specific for Asians including Taiwan aborigines. The genetic frequencies of C571T were much higher in Taiwan aborigines (1.96% to 20.4%), Filipinos (13.2%), and Indonesians (3.30%) as compared with Thai (0.57%), Chinese (0.65% to 1.12%), Japanese (0%), and Caucasians (0%). The frequencies of the G849A mutation were also higher in Taiwan aborigines (0.38% to 21.57%), Filipinos (6.80%), and Indonesians (1.48%) than in Thai (0.94%), Chinese (0-0.37%), Japanese (0%), or Caucasians (0%). Deletion of a 3-bp region (nt 688 to nt 690) was found only in Filipinos (0.85%), Indonesians (0.74%), and three tribes (0.42% to 2.70%) of Taiwan aborigines, but not in other populations. The C628T mutation was found only in Taiwanese Han, Thai, and two tribes of Taiwan aborigines. The genetic frequency of the C357T polymorphism was much higher in Asians than in Caucasians. The genetic analysis confirms that the origins of Taiwan aborigines are Austronesian and that they are closely related to the Filipino and Indonesian populations. We suggest that mutations or polymorphisms of the FUT2 gene are very good markers for investigating population genetics.