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- Title
A novel missense mutation nt737T>G of JK gene with Jk(a−b−) phenotype in Chinese blood donors.
- Authors
Ma, L.; Liu, Y. C.; Zhu, S. W.; Hu, W. J.; Chen, X.; Xue, M.; Zhen, L.; Wu, M. H.; Liu, Y.; Sun, J.
- Abstract
SUMMARY Objectives The aim of this study was to investigate the molecular mechanism of the JK-null phenotype in the Chinese population. Background The Jk(a−b−) phenotype is vanishingly rare and the molecular basis differs between ethnic groups. The information regarding the molecular basis of JK-null alleles in the Chinese population is limited. Materials and methods Three unrelated Jk(a−b−) phenotype donors were selected from 52 260 randomly blood samples through the urea lysis test and serological analysis. The JK gene-coding regions were amplified by the polymerase chain reaction and the products were sequenced directly. Results Sequencing results revealed that one sample of JK*B alleles carried the well-known Polynesian Jk(a−b−) mutation IVS5-1g>a. Another null allele, also on the JK*B background, presented with two heterozygous missense mutation, including nt222C>A( Asn74Lys) in exon 5 and nt896G>A( Gly299Glu) in exon 9. The third null allele carried two heterozygous missense mutations, nt222C>A and a novel allele nt737T>G( Leu246Arg) in exon 8. The family investigation revealed that the proband was JK*A( 737T>G)/ JK*B( 222C>A). Conclusion The Jk(a−b−) phenotype in the Chinese population shows several different molecular mechanisms. A novel missense mutation nt737T>G of JK gene was found as associated with Jk(a−b−) phenotype.
- Subjects
PHENOTYPES; GENETICS; HUMAN phenotype; ALLELES; BLOOD donors
- Publication
Transfusion Medicine, 2015, Vol 25, Issue 1, p38
- ISSN
0958-7578
- Publication type
Article
- DOI
10.1111/tme.12185