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Erythroid urea transporter deficiency due to novel JK(null) alleles

Wester, Elisabet S; Johnson, Susan T; Copeland, Tama; Malde, Ranjan; Lee, Edmond; Storry, Jill R and Olsson, Martin L LU (2008) In Transfusion 48(2). p.365-372
Abstract
BACKGROUND: The Kidd blood group antigens Jk(a) and Jk(b) are encoded by the red blood cell (RBC) urea transporter gene. Homozygosity for silent JK alleles results in the rare Jk(a-b-) phenotype. To date, seven JK(null) alleles have been identified, and of these, two are more frequent in the Polynesians and Finns. This study reports the identification of other JK(null) alleles in Jk(a-b-) individuals of different ethnic or geographic origins. STUDY DESIGN AND METHODS: Nine Jk(a-b-) samples and a sample from a Jk(a-b+) mother of a Jk(a+b-) baby were investigated. Polymerase chain reaction amplification and sequence analysis of the JK gene was performed. Western blotting and urea lysis were used to confirm Jk(a-b-) RBCs. RESULTS: Four novel... (More)
BACKGROUND: The Kidd blood group antigens Jk(a) and Jk(b) are encoded by the red blood cell (RBC) urea transporter gene. Homozygosity for silent JK alleles results in the rare Jk(a-b-) phenotype. To date, seven JK(null) alleles have been identified, and of these, two are more frequent in the Polynesians and Finns. This study reports the identification of other JK(null) alleles in Jk(a-b-) individuals of different ethnic or geographic origins. STUDY DESIGN AND METHODS: Nine Jk(a-b-) samples and a sample from a Jk(a-b+) mother of a Jk(a+b-) baby were investigated. Polymerase chain reaction amplification and sequence analysis of the JK gene was performed. Western blotting and urea lysis were used to confirm Jk(a-b-) RBCs. RESULTS: Four novel alleles were identified: two different nonsense mutations, 202C > T (Gln68Stop) and 723delA (Ile262Stop) were identified on otherwise consensus JK*1 and JK*2 alleles, respectively. A missense mutation, 956C > T (Thr319Met), was identified in a JK*1 allele from an African-American and a JK*2 allele in two people of subcontinental Indian descent. Immunoblotting and urea lysis confirmed absence of JK glycoprotein in RBC membranes from a sample carrying the 956C > T mutation. Other previously described JK(null) mutations were found in samples of origins other than in which they were first identified. CONCLUSION: The molecular bases of the Jk(a-b-) phenotype are diverse and this is the first report of JK(null) alleles in individuals of African and subcontinental Indian descent. Although rare, these alleles should be taken into consideration when planning genotyping strategies for blood donors and patients. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Transfusion
volume
48
issue
2
pages
365 - 372
publisher
Wiley-Blackwell
external identifiers
  • wos:000252589400022
  • scopus:38349184783
ISSN
1537-2995
DOI
10.1111/j.1537-2995.2007.01532.x
language
English
LU publication?
yes
id
36649cf9-a7ce-4ae5-8551-30ee1e97176a (old id 1198878)
date added to LUP
2008-08-19 13:34:43
date last changed
2017-09-03 04:25:41
@article{36649cf9-a7ce-4ae5-8551-30ee1e97176a,
  abstract     = {BACKGROUND: The Kidd blood group antigens Jk(a) and Jk(b) are encoded by the red blood cell (RBC) urea transporter gene. Homozygosity for silent JK alleles results in the rare Jk(a-b-) phenotype. To date, seven JK(null) alleles have been identified, and of these, two are more frequent in the Polynesians and Finns. This study reports the identification of other JK(null) alleles in Jk(a-b-) individuals of different ethnic or geographic origins. STUDY DESIGN AND METHODS: Nine Jk(a-b-) samples and a sample from a Jk(a-b+) mother of a Jk(a+b-) baby were investigated. Polymerase chain reaction amplification and sequence analysis of the JK gene was performed. Western blotting and urea lysis were used to confirm Jk(a-b-) RBCs. RESULTS: Four novel alleles were identified: two different nonsense mutations, 202C > T (Gln68Stop) and 723delA (Ile262Stop) were identified on otherwise consensus JK*1 and JK*2 alleles, respectively. A missense mutation, 956C > T (Thr319Met), was identified in a JK*1 allele from an African-American and a JK*2 allele in two people of subcontinental Indian descent. Immunoblotting and urea lysis confirmed absence of JK glycoprotein in RBC membranes from a sample carrying the 956C > T mutation. Other previously described JK(null) mutations were found in samples of origins other than in which they were first identified. CONCLUSION: The molecular bases of the Jk(a-b-) phenotype are diverse and this is the first report of JK(null) alleles in individuals of African and subcontinental Indian descent. Although rare, these alleles should be taken into consideration when planning genotyping strategies for blood donors and patients.},
  author       = {Wester, Elisabet S and Johnson, Susan T and Copeland, Tama and Malde, Ranjan and Lee, Edmond and Storry, Jill R and Olsson, Martin L},
  issn         = {1537-2995},
  language     = {eng},
  number       = {2},
  pages        = {365--372},
  publisher    = {Wiley-Blackwell},
  series       = {Transfusion},
  title        = {Erythroid urea transporter deficiency due to novel JK(null) alleles},
  url          = {http://dx.doi.org/10.1111/j.1537-2995.2007.01532.x},
  volume       = {48},
  year         = {2008},
}