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

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.

journal_name

Vox Sang

journal_title

Vox sanguinis

authors

Wester ES,Steffensen R,Ligthart PC,Vad J,de Haas M,Storry JR,Olsson ML

doi

10.1111/j.1423-0410.2010.01334.x

subject

Has Abstract

pub_date

2010-08-01 00:00:00

pages

150-7

issue

2

eissn

0042-9007

issn

1423-0410

pii

VOX1334

journal_volume

99

pub_type

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