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KEL*02 alleles with alterations in and around exon 8 in individuals with apparent KEL:1,-2 phenotypes.

Sjöberg Wester, Elisabet; Steffensen, R; Ligthart, P C; Vad, J; de Haas, M; Storry, Jill LU and Olsson, Martin L LU (2010) In Vox Sanguinis May 4. p.150-157
Abstract
Background and Objectives Antibodies to antigens in the Kell blood group system, especially anti-KEL1, are involved in both haemolytic disease of the newborn and foetus and haemolytic transfusion reactions. Correct typing results are important and discrepancies between serologic and genetic typing must be resolved. Here, we describe the investigation of three healthy individuals who were initially phenotyped as KEL:1,-2. Materials and Methods Antigen typing was performed by standard serological techniques and by flow cytometric analysis. The KEL*01/02 polymorphism was tested by an allele-discrimination TaqMan assay as well as by PCR with allele-specific primers and PCR-RFLP. DNA sequencing of the KEL coding region was also performed.... (More)
Background and Objectives Antibodies to antigens in the Kell blood group system, especially anti-KEL1, are involved in both haemolytic disease of the newborn and foetus and haemolytic transfusion reactions. Correct typing results are important and discrepancies between serologic and genetic typing must be resolved. Here, we describe the investigation of three healthy individuals who were initially phenotyped as KEL:1,-2. Materials and Methods Antigen typing was performed by standard serological techniques and by flow cytometric analysis. The KEL*01/02 polymorphism was tested by an allele-discrimination TaqMan assay as well as by PCR with allele-specific primers and PCR-RFLP. DNA sequencing of the KEL coding region was also performed. Results Two KEL*02N alleles with mutated splice sites around exon 8 were identified: intron 7 -1g>c (novel) and intron 8 +1g>t (previously reported in one case of K(0)). In the third sample, a missense mutation in exon 8, 787G>A (novel) predicting Gly263Arg, was detected on a KEL*02 allele and associated with dramatically weakened KEL2 antigen expression. Conclusion Resolution of discrepant phenotype/genotype results identified silencing mutations in or around exon 8. A combination of molecular and serologic methods has the potential to improve the quality of test results and was required to ensure both the accurate KEL2 antigen status and KEL*01 zygosity of these individuals. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Vox Sanguinis
volume
May 4
pages
150 - 157
publisher
Wiley-Blackwell
external identifiers
  • WOS:000279940000007
  • PMID:20384970
  • Scopus:77954717749
ISSN
1423-0410
DOI
10.1111/j.1423-0410.2010.01334.x
language
English
LU publication?
yes
id
e510a4cd-6abb-4542-bfdc-f1942f76a5fd (old id 1595342)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/20384970?dopt=Abstract
date added to LUP
2010-05-04 22:39:08
date last changed
2017-01-01 07:52:43
@article{e510a4cd-6abb-4542-bfdc-f1942f76a5fd,
  abstract     = {Background and Objectives Antibodies to antigens in the Kell blood group system, especially anti-KEL1, are involved in both haemolytic disease of the newborn and foetus and haemolytic transfusion reactions. Correct typing results are important and discrepancies between serologic and genetic typing must be resolved. Here, we describe the investigation of three healthy individuals who were initially phenotyped as KEL:1,-2. Materials and Methods Antigen typing was performed by standard serological techniques and by flow cytometric analysis. The KEL*01/02 polymorphism was tested by an allele-discrimination TaqMan assay as well as by PCR with allele-specific primers and PCR-RFLP. DNA sequencing of the KEL coding region was also performed. Results Two KEL*02N alleles with mutated splice sites around exon 8 were identified: intron 7 -1g>c (novel) and intron 8 +1g>t (previously reported in one case of K(0)). In the third sample, a missense mutation in exon 8, 787G>A (novel) predicting Gly263Arg, was detected on a KEL*02 allele and associated with dramatically weakened KEL2 antigen expression. Conclusion Resolution of discrepant phenotype/genotype results identified silencing mutations in or around exon 8. A combination of molecular and serologic methods has the potential to improve the quality of test results and was required to ensure both the accurate KEL2 antigen status and KEL*01 zygosity of these individuals.},
  author       = {Sjöberg Wester, Elisabet and Steffensen, R and Ligthart, P C and Vad, J and de Haas, M and Storry, Jill and Olsson, Martin L},
  issn         = {1423-0410},
  language     = {eng},
  pages        = {150--157},
  publisher    = {Wiley-Blackwell},
  series       = {Vox Sanguinis},
  title        = {KEL*02 alleles with alterations in and around exon 8 in individuals with apparent KEL:1,-2 phenotypes.},
  url          = {http://dx.doi.org/10.1111/j.1423-0410.2010.01334.x},
  volume       = {May 4},
  year         = {2010},
}