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Molecular genetic analysis of variant phenotypes of the ABO blood group
system
K Ogasawara, R Yabe, M Uchikawa, N Saitou, M Bannai, K Nakata, M Takenaka, K Fujisawa, Y Ishikawa, T Juji and K Tokunaga
Japanese Red Cross Tokyo Metropolitan Blood Center, Japan.
ABO is clinically the most important blood group system in transfusion
medicine and includes many variant phenotypes. To understand the molecular
genetic basis of this polymorphic system, we have analyzed genomic DNAs
obtained from Japanese individuals possessing variant ABO phenotypes
including A2, Ax, Ael, cis-AB, Bx, and Bel. By polymerase chain
reaction-single-strand conformation polymorphism (SSCP) and nucleotide
sequence analyses, we identified 11 different alleles. These alleles had
nucleotide sequences different from those of the previously described 13
different alleles responsible for the common ABO phenotypes. Analysis of
the nucleotide sequences of the alleles responsible for those variant
phenotypes showed that the amino acid residues at position 266 and 268 may
be crucial for transferase specificity, whereas those at positions 214,
216, 223, 291, and 352 may be critical for the activity level. Nine of the
11 alleles, responsible for the A2, Ax, Ael, cis-AB, Bx, and Bel
phenotypes, were presumed to be generated from common ABO alleles by single
nucleotide mutations such as nonsynonymous substitution, deletion, or
insertion. Two other alleles, responsible for the A2 and Ael phenotypes,
may have originated by recombination, gene conversionlike events or
accumulation of nucleotide substitutions. Our data indicate that different
alleles could cause the same ABO variant phenotypes, and that these alleles
do not necessarily belong to a single evolutionary lineage.
Volume 88,
Issue 7,
pp. 2732-2737,
10/01/1996
Copyright © 1996 by The American Society of Hematology
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