Allelic diversity of the human plasma alpha(1,3)fucosyltransferase gene (FUT6)

The 1080-bp coding region of the human plasma alpha(1,3)fucosyltransferase gene (FUT6) was sequenced in a total of 161 individuals (322 chromosomes) d rawn from three populations, involving 56 Africans (Xhosa), 52 European-Afr icans of South Africa, and 53 Japanese. In addition to six reported base su bstitutions, eleven new base substitutions and a single base insertion were found in the coding region of the FUT6. Eleven functional and four null al leles were encountered, of which 10 alleles were novel alleles identified i n 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 o f FUT6 was 0.860, 0.699, and 0.632, in Xhosa, European-African (South Afric a), and in Japanese populations, respectively. The extensive DNA sequence d iversity of the FUT6 may be suitable for application as a tool in genetic s tudies for modern human evolution.