Two distinct Alu-mediated deletions of the human ABO-secretor (FUT2) locus in Samoan and Bangladeshi populations.

The human secretor alpha(1,2) fucosyltransferase encoded by the FUT2 determines the production of ABO(H) antigens in secretions. Recent studies demonstrated the presence of several nonfunctional alleles in the FUT2. During the analysis for inactivating mutations at the FUT2 locus from 24 Samoan and 47 Bangladeshi individuals, we found two distinct Alu-mediated deletions of FUT2. The FUT2 deletion in a Bangladeshi population was identical with that found in Indian individuals with the Bombay phenotype (se(del)), but not associated with the null allele (T725G) of the H gene (FUT1). The FUT2 deletion in Samoans is a novel null allele (se(del2)). The junction region of se(del2) was successfully amplified using the same primers for the se(del) amplification. DNA sequencing of the junction region of the se(del2) indicated that there was a 32-bp sequence identity between DNA sequences surrounding the 5' and 3' breakpoints. The size of the deletion of the se(del2) was 9.3 kb, including the full coding region of FUT2. The frequency of the se(del) in a Bangladeshi population was 0.074, and that of the se(del2) in a Samoan population was 0.104. Hum Mutat 16:274, 2000.