Genomic analysis of para-Bombay individuals in south-eastern China: the possibility of linkage and disequilibrium between FUT1 and FUT2

BackgroundThe para-Bombay phenotype results from a variety of mutations in the α-(1,2)-fucosyltransferase gene (FUT1). We investigated samples from seven Chinese probands serologically typed as having the para-Bombay phenotype.ResultsThree FUT1 genotypes, h1/h1 (5 individuals), h1/h6 (1 individual) and h3/h2 (1 individual), and three FUT2 genotypes, Se³⁵⁷/Se³⁵⁷ (5 individuals), Se³⁵⁷/Se^{357, 385} (1 individual) and Se³⁵⁷/Se^{357, 716} (1 individual) were observed in seven para-Bombay probands. Among 331 donors, only one individual carried the G716A and 880delTT mutations in heterozygosity; this subjects FUT1 and FUT2 genotypes were H/h2 and Se³⁵⁷/Se^{357, 716}, respectively.ConclusionThe review of all para-Bombay probands identified in the Fujian Blood Centre showed that h1 and h2 are the predominant non-functional FUT1 alleles in Fujian para-Bombay individuals. Our data confirm the hypothesis that the h2 allele is linked to Se^{357, 716}, and the concurrence of unique FUT1 and FUT2 mutations is geographically specific.