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Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families.

Irshaid, Nidal M; Eicher, Nicole I; Hustinx, Hein; Poole, Joyce and Olsson, Martin L LU (2002) In British Journal of Haematology 116(2). p.445-453
Abstract
The Kidd (JK) blood group system is of importance in transfusion medicine. The Jk(null) phenotype is associated with absence of the urea transporter in erythrocytes and moderately reduced ability to concentrate urine. We and others recently reported different molecular alterations in the silenced Jkb-like alleles of Polynesians and Finns, populations with higher Jk(null) frequencies. Here we report novel molecular bases of this phenotype in Caucasians. Blood samples from a Swiss and an English family were investigated by serological methods, urea haemolysis test and JK genotyping. Genomic DNA and JK mRNA were sequenced. Genotyping showed homozygosity for Jka-like alleles. The Swiss Jk(null) alleles deviated from wild-type Jka sequence by a... (More)
The Kidd (JK) blood group system is of importance in transfusion medicine. The Jk(null) phenotype is associated with absence of the urea transporter in erythrocytes and moderately reduced ability to concentrate urine. We and others recently reported different molecular alterations in the silenced Jkb-like alleles of Polynesians and Finns, populations with higher Jk(null) frequencies. Here we report novel molecular bases of this phenotype in Caucasians. Blood samples from a Swiss and an English family were investigated by serological methods, urea haemolysis test and JK genotyping. Genomic DNA and JK mRNA were sequenced. Genotyping showed homozygosity for Jka-like alleles. The Swiss Jk(null) alleles deviated from wild-type Jka sequence by a nonsense mutation in exon 7 causing an immediate stop codon (Tyr194stop). The English Jk(null) alleles revealed a genomic 1.6 kilobase pair deletion including exons 4 and 5, the former of which includes the translation start codon. Multiple mRNA splicing variants were detected in reticulocytes but exons 3-5 were absent in all transcripts analysed. Screening for these alleles was negative in random donors. Two novel molecular alterations at the JK locus were defined and a multiplex polymerase chain reaction method for detection of the five known silent Jk alleles was developed to complement JK genotyping in clinical transfusion medicine. (Less)
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Contribution to journal
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published
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keywords
DNA, Sequence Analysis, RNA, Polymerase Chain Reaction/methods, Membrane Glycoproteins/*metabolism, Phenotype, Kidney Concentrating Ability/*genetics, Kidd Blood-Group System/*genetics, Jordan, Gene Deletion, Human, Messenger/analysis, Erythrocytes/*metabolism, England, Codon, Nonsense, Carrier Proteins/*metabolism, Alleles
in
British Journal of Haematology
volume
116
issue
2
pages
445 - 453
publisher
Federation of European Neuroscience Societies and Blackwell Publishing Ltd
external identifiers
  • wos:000174060700029
  • pmid:11841450
  • scopus:0036174928
ISSN
0007-1048
DOI
10.1046/j.1365-2141.2002.03238.x
language
English
LU publication?
yes
id
f08a6d83-68f5-4077-81dd-3278837a7f1f (old id 106051)
alternative location
http://dx.doi.org/10.1046/j.1365-2141.2002.03238.x
date added to LUP
2007-07-09 13:07:34
date last changed
2017-09-03 03:44:23
@article{f08a6d83-68f5-4077-81dd-3278837a7f1f,
  abstract     = {The Kidd (JK) blood group system is of importance in transfusion medicine. The Jk(null) phenotype is associated with absence of the urea transporter in erythrocytes and moderately reduced ability to concentrate urine. We and others recently reported different molecular alterations in the silenced Jkb-like alleles of Polynesians and Finns, populations with higher Jk(null) frequencies. Here we report novel molecular bases of this phenotype in Caucasians. Blood samples from a Swiss and an English family were investigated by serological methods, urea haemolysis test and JK genotyping. Genomic DNA and JK mRNA were sequenced. Genotyping showed homozygosity for Jka-like alleles. The Swiss Jk(null) alleles deviated from wild-type Jka sequence by a nonsense mutation in exon 7 causing an immediate stop codon (Tyr194stop). The English Jk(null) alleles revealed a genomic 1.6 kilobase pair deletion including exons 4 and 5, the former of which includes the translation start codon. Multiple mRNA splicing variants were detected in reticulocytes but exons 3-5 were absent in all transcripts analysed. Screening for these alleles was negative in random donors. Two novel molecular alterations at the JK locus were defined and a multiplex polymerase chain reaction method for detection of the five known silent Jk alleles was developed to complement JK genotyping in clinical transfusion medicine.},
  author       = {Irshaid, Nidal M and Eicher, Nicole I and Hustinx, Hein and Poole, Joyce and Olsson, Martin L},
  issn         = {0007-1048},
  keyword      = {DNA,Sequence Analysis,RNA,Polymerase Chain Reaction/methods,Membrane Glycoproteins/*metabolism,Phenotype,Kidney Concentrating Ability/*genetics,Kidd Blood-Group System/*genetics,Jordan,Gene Deletion,Human,Messenger/analysis,Erythrocytes/*metabolism,England,Codon,Nonsense,Carrier Proteins/*metabolism,Alleles},
  language     = {eng},
  number       = {2},
  pages        = {445--453},
  publisher    = {Federation of European Neuroscience Societies and Blackwell Publishing Ltd},
  series       = {British Journal of Haematology},
  title        = {Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families.},
  url          = {http://dx.doi.org/10.1046/j.1365-2141.2002.03238.x},
  volume       = {116},
  year         = {2002},
}