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A novel missense mutation nt737T >G of JK gene with Jk(a−b−) phenotype in Chinese blood donors
Author(s) -
Ma L.,
Liu Y. C.,
Zhu S. W.,
Hu W. J.,
Chen X.,
Xue M.,
Zhen L.,
Wu M. H.,
Liu Y.,
Sun J.
Publication year - 2015
Publication title -
transfusion medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.471
H-Index - 59
eISSN - 1365-3148
pISSN - 0958-7578
DOI - 10.1111/tme.12185
Subject(s) - missense mutation , genetics , exon , allele , biology , phenotype , null allele , microbiology and biotechnology , proband , mutation , population , gene , medicine , environmental health
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.