Genomic characterization of the kidd blood group gene:different molecular basis of the Jk(a-b-) phenotype in Polynesians and Finns
- PMID: 10644814
- DOI: 10.1046/j.1537-2995.2000.40010069.x
Genomic characterization of the kidd blood group gene:different molecular basis of the Jk(a-b-) phenotype in Polynesians and Finns
Abstract
Background: The clinically important Kidd (JK) blood group antigens are carried by the urea transporter in red cells. The rare Jk(a-b-) phenotype can be caused by homozygosity at the JK locus for a silent allele, JK: This phenotype has been recorded in many ethnic groups, but it is most abundant among people originating from the Polynesian Islands and Finland VSports手机版. The molecular basis for Jk(a-b-) is unknown in these populations. .
Study design and methods: Blood samples from individuals of Swedish, Polynesian, and Finnish origin were collected and characterized by routine JK blood group serology and JK genotyping V体育安卓版. Genomic DNA covering the exons and intervening introns of the JK gene coding region was amplified by polymerase chain reaction, and fragments were directly sequenced. .
Results: Exon and partial intron sequences in the coding region of the JK gene were determined. Finnish and Polynesian Jk alleles were analyzed; the only deviations from consensus were a splice-site mutation (G-->A) in Polynesians, causing skipping of exon 6, and a T871C substitution predicted to disrupt a potential N-glyco-sylation motif (NSS-->NSP) in Finns V体育ios版. Methods for rapid detection of silent Jk alleles were developed for clinical application. .
Conclusion: Polynesians and Finns have two different molecular alterations in their Jk alleles, both of which can now be determined by polymerase chain reaction. VSports最新版本.
Comment in
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"VSports注册入口" Screening of six racial groups for the intron 5 G-->A 3' splice acceptor mutation responsible for the polynesian kidd (a-b-) phenotype: the null mutation is not always associated with the JKB allele.Transfusion. 2000 Jul;40(7):888-9. doi: 10.1046/j.1537-2995.2000.40070888.x. Transfusion. 2000. PMID: 10924622 No abstract available.
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