Polymorphism of the human ABO-Secretor locus (FUT2) in four populations in Asia: indication of distinct Asian subpopulations.

The polymorphic alleles of the human ABO-Secretor locus (FUT2 or Se) show high heterogeneity and overt ethnic specificity. To provide additional data for analysis to elucidate the origins of populations, we have investigated the allelic polymorphism of FUT2 in 40 unrelated Tibetan and 53 Tamang individuals from Nepal, 42 Indonesian individuals from Surabaya, and 55 Uygur individuals from Urumqi, using DNA sequencing. In Tibetan, Tamang and Indonesian populations, the frequency of a nonfunctional allele, se 357,385, which is found only in Asian populations, was 0.638, 0.509 and 0.631, respectively. In Uygur, the se 428, which is common in Caucasian populations, and the se 357,385 consisting of two common nonfunctional FUT2 alleles, had frequencies of 0.3 and 0.145, respectively. The fixation index (F ST) based on genetic differentiation was obtained pairwise among the four populations in this study and six populations in our previous studies. The results suggested that genetic differentiation among Tibetan, Tamang, Indonesian and East Asian populations is very low, while the distribution feature of the FUT2 alleles in the Uygur population implied an admixture of European with Asian. The distribution of nonfunctional alleles at the FUT2 locus provided further evidence of human migration among the Asian populations.