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Genetic basis of the K phenotype in the Swedish population.

Sjöberg Wester, Elisabet LU ; Storry, Jill LU ; Schneider, Karin; Nilsson Sojka, Birgitta; Poole, Joyce and Olsson, Martin L LU (2005) In Transfusion 45(4). p.545-549
Abstract (Swedish)
Abstract in Undetermined

BACKGROUND:

The absence of all Kell blood group antigens (K0 phenotype) is very rare. K0 persons, however, can produce clinically significant anti-Ku (K5)

after transfusion and/or pregnancy and require K0 blood for transfusion. Ten alleles giving rise to the K0 phenotype have been reported: different populations were studied although none from Scandinavia.

STUDY DESIGN AND METHODS:

Three K0 samples were identified by blood banks in Sweden (Uppsala,Umeå, and Linköping) during a 20-year period. Kell antigen typing was performed with standard serologic techniques by the respective blood banks and K

0 status was confirmed by the International Blood... (More)
Abstract in Undetermined

BACKGROUND:

The absence of all Kell blood group antigens (K0 phenotype) is very rare. K0 persons, however, can produce clinically significant anti-Ku (K5)

after transfusion and/or pregnancy and require K0 blood for transfusion. Ten alleles giving rise to the K0 phenotype have been reported: different populations were studied although none from Scandinavia.

STUDY DESIGN AND METHODS:

Three K0 samples were identified by blood banks in Sweden (Uppsala,Umeå, and Linköping) during a 20-year period. Kell antigen typing was performed with standard serologic techniques by the respective blood banks and K

0 status was confirmed by the International Blood GroupReference Laboratory in Bristol, England. Polymerase chain reaction and DNA sequencing of the KEL coding region (exons 1-19) was performed on genomic DNA.

RESULTS:The Uppsala K0 was homozygous for a 1540C>T substitution in exon 13, leading to an immediate stop codon. The Umeå K0 was homozygous for 1023delG in exon 8 that results in a frameshift and a premature stop

codon in exon 9. In the Linköping K0, a previously reported mutation g>a at +1 of intron 3 was found.

CONCLUSION:

Two novel and one previously reported null alleles at the KEL locus are described. The identified nonsense mutations abolish expression of the Kell glycoprotein and are thus responsible for the K0 phenotype in these Swedish families. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Kell, K0, erythrocyte, Blood group antigen, genotype
in
Transfusion
volume
45
issue
4
pages
545 - 549
publisher
Wiley-Blackwell
external identifiers
  • wos:000227776400015
  • pmid:15819675
  • scopus:17044367421
ISSN
1537-2995
DOI
10.1111/j.0041-1132.2005.04283.x
language
English
LU publication?
yes
id
bac8ca86-7999-4ea6-afea-2ed55f5fcef7 (old id 136293)
alternative location
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15819675&dopt=Abstract
http://onlinelibrary.wiley.com/doi/10.1111/j.0041-1132.2005.04283.x/abstract
date added to LUP
2007-07-09 14:50:14
date last changed
2017-02-19 04:10:54
@article{bac8ca86-7999-4ea6-afea-2ed55f5fcef7,
  abstract     = {<b>Abstract in Undetermined</b><br/><br>
BACKGROUND:<br/><br>
The absence of all Kell blood group antigens (K0 phenotype) is very rare. K0 persons, however, can produce clinically significant anti-Ku (K5)<br/><br>
after transfusion and/or pregnancy and require K0 blood for transfusion. Ten alleles giving rise to the K0 phenotype have been reported: different populations were studied although none from Scandinavia.<br/><br>
STUDY DESIGN AND METHODS:<br/><br>
Three K0 samples were identified by blood banks in Sweden (Uppsala,Umeå, and Linköping) during a 20-year period. Kell antigen typing was performed with standard serologic techniques by the respective blood banks and K<br/><br>
0 status was confirmed by the International Blood GroupReference Laboratory in Bristol, England. Polymerase chain reaction and DNA sequencing of the KEL coding region (exons 1-19) was performed on genomic DNA.<br/><br>
RESULTS:The Uppsala K0 was homozygous for a 1540C&gt;T substitution in exon 13, leading to an immediate stop codon. The Umeå K0 was homozygous for 1023delG in exon 8 that results in a frameshift and a premature stop<br/><br>
codon in exon 9. In the Linköping K0, a previously reported mutation g&gt;a at +1 of intron 3 was found.<br/><br>
CONCLUSION:<br/><br>
Two novel and one previously reported null alleles at the KEL locus are described. The identified nonsense mutations abolish expression of the Kell glycoprotein and are thus responsible for the K0 phenotype in these Swedish families.},
  author       = {Sjöberg Wester, Elisabet and Storry, Jill and Schneider, Karin and Nilsson Sojka, Birgitta and Poole, Joyce and Olsson, Martin L},
  issn         = {1537-2995},
  keyword      = {Kell,K0,erythrocyte,Blood group antigen,genotype},
  language     = {eng},
  number       = {4},
  pages        = {545--549},
  publisher    = {Wiley-Blackwell},
  series       = {Transfusion},
  title        = {Genetic basis of the K phenotype in the Swedish population.},
  url          = {http://dx.doi.org/10.1111/j.0041-1132.2005.04283.x},
  volume       = {45},
  year         = {2005},
}