Molecular Polymorphism of O Alleles in the Chinese Han Population

Th e ABO blood group system is the most important in transfusion medicine. O blood group is common in Chinese Han people, but the distribution of various O alleles is unknown. Sequences of exon6 and exon7 of the O allele at the ABO gene locus were studied in 100 individuals of the O phenotype randomly selected from the Chinese Han population. Some samples, when required, were cloned and sequenced spanning exon6 and exon7. Eight O alleles were found in the Chinese population. Most have the 2 common O01 or O02 alleles. Th e allele frequency of ABO*O01 was 0.47, and that of ABO*O02 was 0.495. One individual was found to have O05 allele. Five alleles were found to diff er from all alleles reported to date. Four of these alleles diff ered from either the O01 allele (1 out of 4) or O02 allele (3 out of 4) by 1 point mutation at A468G, G489A, T526C, or T1104G. Th e fi fth allele diff ered from the O01 allele since it does not have nt261G deletion but has C467T mutation. Th is novel allele occurred in 2 individuals. O genetic analysis suggests that the O01 allele prevails, with O1v accounting for about 97% of these in the Chinese Han population. Th e O03 allele that has been shown to occur with a frequency of <5% in other populations was not detected. But the novel O allele without 261G deletion has been found in Chinese for the fi rst time. Surely more O alleles will be found in the Chinese population.