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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/280068
- author
- Estalote, AC
; Palatnik, M
; Chester, Alan
LU
; Olsson, Martin L
LU
and Gomes, BMS
- organization
- publishing date
- 2004
- 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
- 2016-04-01 15:40:53
- date last changed
- 2022-01-28 06:33:02
@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}},
keywords = {{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}},
doi = {{10.1111/j.0958-7578.2004.00494.x}},
volume = {{14}},
year = {{2004}},
}