Molecular polymorphism of O alleles in the chinese han population

作者：Yang, Bao-Cheng; Zeng, Jian-Qiang; Yu, Qiong; Liang, Yan-Lian; Su, Yu-Qing; Deng, Zhi-Hui^*

来源：Annals of Clinical and Laboratory Science, 2007, 37(1): 71-74.

• ABO blood-group system
• O allele
• genetic polymorphisms

The 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 001 or 002 alleles. The allele frequency of ABO*O01 was 0.47, and that of ABO*O02 was 0.495. One individual was found to have 005 allele. Five alleles were found to differ from all alleles reported to date. Four of these alleles differed from either the 001 allele (1 out of 4) or 002 allele (3 out of 4) by 1 point mutation at A468G, G489A, T526C, or T1104G. The fifth allele differed from the 001 allele since it does not have nt261G deletion but has C467T mutation. This 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. The 003 allele that has been shown to occur with a frequency of < 5% in other populations was not detected. But the novel O allele without 2616 deletion has been found in Chinese for the first time. Surely more O alleles will be found in the Chinese population.

• 出版日期2007-WIN
• 单位深圳市血液中心