The 1080-bp coding region of the human plasma α(1,3)fucosyltransferase gene (FUT6) was
sequenced in a total of 161 individuals (322 chromosomes) drawn from three populations, involving
56 Africans (Xhosa), 52 European-Africans of South Africa, and 53 Japanese. In addition to six
reported base substitutions, eleven new base substitutions and a single base insertion were found
in the coding region of the FUT6. Eleven functional and four null alleles were encountered,
of which 10 alleles were novel alleles identified in this study. Two null alleles have been identified
previously, whereas two novel null alleles, which contained a single base (cytosine) insertion at
nucleotide 499, were found in a Xhosa population. The allelic distributions of FUT6 were different
among these three populations. The heterozygosity of FUT6 was 0.860, 0.699, and 0.632, in Xhosa,
European-African (South Africa), and in Japanese populations, respectively. The extensive DNA
sequence diversity of the FUT6 may be suitable for application as a tool in genetic studies for modern
human evolution.