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:
https://lup.lub.lu.se/record/1595342
- author
- Sjöberg Wester, Elisabet
; Steffensen, R
; Ligthart, P C
; Vad, J
; de Haas, M
; Storry, Jill
LU
and Olsson, Martin L
LU
- organization
- publishing date
- 2010
- 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
- pmid:20384970
- 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
- 2016-04-04 09:38:51
- date last changed
- 2022-04-23 21:33:35
@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}},
doi = {{10.1111/j.1423-0410.2010.01334.x}},
volume = {{May 4}},
year = {{2010}},
}