Weak D alleles in Japanese: a c.960G>A silent mutation in exon 7 of the RHD gene that affects D expression

• DOI: 10.1111/vox.12322
• Publication Date: 2015-09-04T18:09:42Z
• Authors: K. Ogasawara; K. Sasaki; K. Isa; H. Tsuneyama; M. Uchikawa; M. Satake; K. Tadokoro
• Keywords: genomic DNA

The molecular basis of the weak D phenotype has been investigated for many years, and more than 80 different alleles producing phenotypes have identified. Most a single missense mutation in exons corresponding to transmembrane domain RhD polypeptide. We report here RHD with nucleotide mutations Japanese accounting expression antigen.Seventy-five blood samples were detected from 763 408 donors by standard serological methods. Forty-five 75 available gene analysis PCR sequencing using genomic DNA reticulocyte mRNA. Real-time was performed estimate relative amounts transcripts.We 16 45 individuals sequencing; 12 newly Thirty-two had an allele mutation, while other 13 c.960G>A silent exon 7. Red cells these showed direct agglutination anti-D at strength 3+ or less. Semi-quantitative transcripts real-time revealed that cDNA significant increment 7 skipping compared common RHD.Reduced antigen is caused not only gene, but also may affect splicing.