The genetic and phenotypic basis of blood group A subtypes in Koreans

A serological and genetic study of Korean blood donors with phenotypic group A subtypes was performed. There were 176 donors with phenotypic A subtypes identified. Exons 6 and 7 from 57 representative donors were sequenced. The Avar allele (784 G > A) was cloned and sequenced, and a family study...

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Bibliographic Details
Published in:Transfusion medicine (Oxford, England) England), 2005-08, Vol.15 (4), p.329-334
Main Authors: Cho, D., Shin, M. G., Yazer, M. H., Kee, S. J., Shin, J. H., Suh, S. P., Jeon, M. J., Song, J. W., Ki, C. S., Ryang, D. W.
Format: Article
Language:English
Subjects:
A var
ABO Blood-Group System - genetics
ABO subtypes
Alleles
allelic enhancement
Blood Donors
Gene Frequency
Genotype
Humans
Inheritance Patterns
Korea
Pedigree
Phenotype
Sequence Analysis, DNA
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Summary:A serological and genetic study of Korean blood donors with phenotypic group A subtypes was performed. There were 176 donors with phenotypic A subtypes identified. Exons 6 and 7 from 57 representative donors were sequenced. The Avar allele (784 G > A) was cloned and sequenced, and a family study demonstrating its inheritance and unusual serological characteristics was performed. The A102 allele was the most frequently identified allele in phenotypically A2 (58%, 11/19) and A2B (68%, 17/25) donors. Anti‐A1 was rarely present amongst A2 and A2B donors. The family study revealed that the Avar allele was expressed as phenotype AweakB in Avar/B heterozygote members, but as phenotype O in Avar/O heterozygotes. The most frequent allele in Korean donors with the A2 phenotype differs from its Caucasian counterpart, as does the frequency of anti‐A1. The Avar allele demonstrates allelic enhancement in Avar/B heterozygotes.
ISSN:0958-7578
1365-3148
DOI:10.1111/j.0958-7578.2005.00598.x