Association of ABO gene mutations resulting in a rare B subgroup.
OBJECTIVE
B subgroups are rare and the genetic analysis reported to date has been limited.


METHODS
Serological and molecular investigations were performed in blood from a B-subgroup donor.


RESULTS
Red cells did not react with anti-B and anti-AB reagents. However, cells absorbed anti-B. Red cells presented positive reactions with anti-H, and saliva secreted H substance. The molecular study demonstrated a B allele with the substitutions 467C>T, 646T>A, 681G>A, 771C>T, 796C>A, 803G>C, 829G>A and an O allele with the sequence of O02.


CONCLUSIONS
It is probable that the presence in exon 7 of some of the O02 substitutions could have weakened the enzymatic activity of the encoded B transferase.
Sousa
N
N
Departamento de Farmacologia, FCM, State University of Campinas, 13083-970 Campinas, Brazil.
Anicchino-Bizzacchi
J M
JM
Leite
E M
EM
Locatelli
M F
MF
Albuquerque
D
D
Costa
F F
FF
Barjas-Castro
M L
ML
D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D004912:Erythrocytes / Q000276:immunology; D005091:Exons; D005700:Galactosyltransferases; D006801:Humans; D007518:Isoantibodies; D017354:Point Mutation
D000017:ABO Blood-Group System; D007518:Isoantibodies; D005700:Galactosyltransferases; C099426:histo-blood group B transferase