SwePub - search: WFRF:(Copeland T)

Enumeration	Reference	Cover	Find
1.	Braam, A.W., et al. (author) Physical health and depressive symptoms in older Europeans - Results from EURODEP 2005 In: BRITISH JOURNAL OF PSYCHIATRY. - 0007-1250. ; 187, s. 35-42 Journal article (peer-reviewed)
2.	Wester, Elisabet S, et al. (author) Erythroid urea transporter deficiency due to novel JK(null) alleles 2008 In: Transfusion. - : Wiley. - 1537-2995 .- 0041-1132. ; 48:2, s. 365-372 Journal article (peer-reviewed)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 JK1 and JK2 alleles, respectively. A missense mutation, 956C > T (Thr319Met), was identified in a JK1 allele from an African-American and a JK2 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.

Wester, Elisabet S, et al. (author)
Erythroid urea transporter deficiency due to novel JK(null) alleles
2008
In: Transfusion. - : Wiley. - 1537-2995 .- 0041-1132. ; 48:2, s. 365-372
Journal article (peer-reviewed)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.

Träfflista för sökning "WFRF:(Copeland T) srt2:(2005-2009)"

Refine your search

Year