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A novel blood group B subgroup: serological and genetic studies

Estalote, AC; Palatnik, M; Chester, Alan LU ; Olsson, Martin L LU and Gomes, BMS (2004) In Transfusion Medicine 14(2). p.173-180
Abstract
A discrepancy in the ABO blood groups between a newborn child and her parents was identified. Serological and DNA investigative techniques were performed. A weak variant of B (B-w) was detected on the erythrocytes of the child, her grandmother and great-uncle. Adsorption-elution studies showed that their erythrocytes adsorb and yield anti-B on elution. The B-w antigenic strength of the A(1)B(w) cells of her mother and maternal aunt was reduced when compared to that of the A(2)B(w) from another family member. Only one of 15 different anti-B sera agglutinated the A(1)B(w) erythrocytes. Agglutinin anti-B that reacted strongly with normal B erythrocytes and did not agglutinate the B-w cells, was found in the sera of the A(1)B(w) individuals.... (More)
A discrepancy in the ABO blood groups between a newborn child and her parents was identified. Serological and DNA investigative techniques were performed. A weak variant of B (B-w) was detected on the erythrocytes of the child, her grandmother and great-uncle. Adsorption-elution studies showed that their erythrocytes adsorb and yield anti-B on elution. The B-w antigenic strength of the A(1)B(w) cells of her mother and maternal aunt was reduced when compared to that of the A(2)B(w) from another family member. Only one of 15 different anti-B sera agglutinated the A(1)B(w) erythrocytes. Agglutinin anti-B that reacted strongly with normal B erythrocytes and did not agglutinate the B-w cells, was found in the sera of the A(1)B(w) individuals. The B-w serum glycosyltransferase could not convert O cells into B cells and no B substance was found in saliva. All family members with the B-w/AB(w) phenotypes were heterozygous for a B allele and DNA sequencing revealed a novel missense mutation in exon 7 of the B allele (556A > G), resulting in M186V. This substitution changes a highly conserved region of the enzyme, proposed to be a disordered loop near the enzyme cleft, and is expected to diminish the enzyme's activity, leading to this B-w phenotype. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
subgroup, genetic polymorphism, B antigen, ABO blood group, ABO gene
in
Transfusion Medicine
volume
14
issue
2
pages
173 - 180
publisher
Wiley-Blackwell
external identifiers
  • wos:000221095100010
  • pmid:15113382
  • scopus:2442532037
ISSN
0958-7578
DOI
10.1111/j.0958-7578.2004.00494.x
language
English
LU publication?
yes
id
44e1ea08-d23e-496d-b2b7-798787923efb (old id 280068)
alternative location
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=15113382&dopt=AbstractPlus
date added to LUP
2007-08-02 13:05:22
date last changed
2017-08-27 05:11:53
@article{44e1ea08-d23e-496d-b2b7-798787923efb,
  abstract     = {A discrepancy in the ABO blood groups between a newborn child and her parents was identified. Serological and DNA investigative techniques were performed. A weak variant of B (B-w) was detected on the erythrocytes of the child, her grandmother and great-uncle. Adsorption-elution studies showed that their erythrocytes adsorb and yield anti-B on elution. The B-w antigenic strength of the A(1)B(w) cells of her mother and maternal aunt was reduced when compared to that of the A(2)B(w) from another family member. Only one of 15 different anti-B sera agglutinated the A(1)B(w) erythrocytes. Agglutinin anti-B that reacted strongly with normal B erythrocytes and did not agglutinate the B-w cells, was found in the sera of the A(1)B(w) individuals. The B-w serum glycosyltransferase could not convert O cells into B cells and no B substance was found in saliva. All family members with the B-w/AB(w) phenotypes were heterozygous for a B allele and DNA sequencing revealed a novel missense mutation in exon 7 of the B allele (556A > G), resulting in M186V. This substitution changes a highly conserved region of the enzyme, proposed to be a disordered loop near the enzyme cleft, and is expected to diminish the enzyme's activity, leading to this B-w phenotype.},
  author       = {Estalote, AC and Palatnik, M and Chester, Alan and Olsson, Martin L and Gomes, BMS},
  issn         = {0958-7578},
  keyword      = {subgroup,genetic polymorphism,B antigen,ABO blood group,ABO gene},
  language     = {eng},
  number       = {2},
  pages        = {173--180},
  publisher    = {Wiley-Blackwell},
  series       = {Transfusion Medicine},
  title        = {A novel blood group B subgroup: serological and genetic studies},
  url          = {http://dx.doi.org/10.1111/j.0958-7578.2004.00494.x},
  volume       = {14},
  year         = {2004},
}