ABO gene analysis of cis-AB and B subgroup in blood donors / 대한수혈학회지

ABSTRACT

BACKGROUDS Based on elucidation of genetic basis of ABO blood group, the genetic mutation of blood subgroup has been investigated. Especially, the discovery of base substitution such as C467T, G803C in cis-AB have made the efforts to determine cis-AB blood group by molecular method. This study was performed to investigate the ABO gene structure and usefulness of genotyping method in blood donors whose blood group are suspected as cis-AB and B subgroup. METHODS: Genotyping for ABO was performed in peripheral blood DNA samples from eight cis-AB donors and five B subgroup donors at red cross blood center. DNA sequencing was performed on Bint, B3 and two cis-AB samples. RESLUTS All eight cis-AB donors showed that they have cis-AB allele and C467T substitution. Through DNA sequencing it was confirmed that cis-AB allele was derived from A allele mutation and two B subgroups showed no base sequence difference with B blood group. CONCLUSIONS: The genotyping method would be useful tool to determine blood group variants in blood donors. And more investigation is required for elucidation of genetic structure and gene expression of ABO blood subgroup.