Korean J Blood Transfus.  2010 Aug;21(2):148-153.

New Variant of O02 Allele Found in the Family of Cis-AB: Report of Three Cases in a Family

Affiliations
  • 1Department of Laboratory Medicine, Chonnam National University Medical School, Gwangju, Korea. dcho@chonnam.ac.kr
  • 2Research Center for Cancer Immunotherapy, Chonnam National University Hwasun Hospital, Hwasun, Korea.

Abstract

In preoperative ABO typing, we observed an ABO discrepancy in a 61 year-old patient with A2B3 phenotype. Standard serologic tests for the ABO blood group phenotypes and ABO gene direct sequencing for the exons 6 and 7 were done as part of the patient's family study. We found that the patient's genotype was identical to cis-AB01/O02, except for a 703 G>A polymorphism at exon 7. An allele-separation by cloning and subsequent sequencing of the heterozygote was carried out. We identified a novel O02 variant allele characterized by a 703 G>A polymorphism in the patient and in her 2 daughters.

Keyword

ABO discrepancy; O02 variant; Allele-separation

MeSH Terms

Alleles
Clone Cells
Cloning, Organism
Exons
Genotype
Heterozygote
Humans
Nuclear Family
Phenotype
Serologic Tests
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