A novel B(var) allele (547 G>A) demonstrates differential expression depending on the co-inherited ABO allele.
OBJECTIVE
Genetic analysis of group B donors in Korea was performed.


METHODS
Exons 6 and 7 were sequenced in 12 phenotypically B3 donors 6 B3, 6 A1B3.


RESULTS
Consensus sequences all B3 and 2/6 A1B3 donors were present. Four A1B3 donors demonstrated a novel B allele, B(var), in the context of A101/ or A102/B(var) genotypes. Family studies based on an A1B3 donor with the B(var) allele and on another unrelated subject with identical genotype and phenotype revealed B(var)/O01 genotypes with full B-antigen expression.


CONCLUSIONS
B(var) allele is subject to differential expression, depending on the co-inherited ABO allele.
Cho
D
D
Department of Laboratory Medicine, Chonnam National University Hospital, Gwangju, South Korea.
Kim
S H
SH
Ki
C S
CS
Choi
K L
KL
Cho
Y G
YG
Song
J W
JW
Shin
J H
JH
Suh
S P
SP
Yazer
M H
MH
Ryang
D W
DW
D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D001782:Blood Donors; D004247:DNA / Q000235:genetics; D005260:Female; D015870:Gene Expression; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007723:Korea; D008297:Male; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
D000017:ABO Blood-Group System; D004247:DNA