Korean J Blood Transfus.  2004 Jun;15(1):45-50.

A Case of A1B3 Child from a Group A Mother and a Group B Father: New Group B Allele Arising from 547G>A

Affiliations
  • 1Department of Laboratory Medicine, Seonam University Hospital, Korea.
  • 2Department of Laboratory Medicine, Chonnam National University Hospital, Korea. dwryang@chonnam.ac.kr
  • 3Gwangju-Chonnam Red Cross Blood Center, Gwangju, Korea.
  • 4Department of Laboratory Medicine, Samsung Medical Center, Seoul, Korea.

Abstract

Group B subtype, A1B3, was observed in a 22-year-old blood donors by conventional serologic test. In our family study, his father demonstrated uncomplicated B phenotype and his mother typed as group A. We sequenced exon 6 and 7 of phenotypically A1B3 propositus and his family members by direct sequencing and PCR-based cloning. And we have identified a novel Bvar allele characterized by a 547G>A polymorphism present in propositus and his father. This suggests that the Bvar allele is expressed differently depending on the co-inherited ABO allele.

Keyword

ABO subgroup; A1B3; ABO blood group gene; 547G>A

MeSH Terms

Alleles*
Blood Donors
Child*
Clone Cells
Cloning, Organism
Exons
Fathers*
Humans
Mothers*
Phenotype
Serologic Tests
Young Adult
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