The fusion gene (se(fus)) is a null allele of the secretor type alpha (1, 2
) fucosyltransferase gene (FUT2) and was first found in a Japanese populati
on. It has not yet been reported in any other ethnic population. In the pre
sent study, we investigated the distribution of the fusion gene of the FUT2
locus in five populations from three ethnic groups in East Asia. The fusio
n gene was found in two additional Japanese populations with a high frequen
cy (0.0551 in Okinawa and 0.0792 in Akita) and, for the first time outside
Japan, in a Korean population, at a very low frequency (0.0063 in Seoul). I
n contrast, we found no fusion gene in two Chinese populations. These findi
ngs showed that the FUR fusion gene was ubiquitous in Japanese, but was rar
e in neighboring populations, suggesting that the FUT2 fusion gene had emer
ged from within the Japanese. Additionally, a new null allele with a C-to-T
substitution at nucleotide 658 was found in one individual native of south
ern China.