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- W2115111134 abstract "Background and Objectives The molecular basis of the weak D phenotype has been investigated for many years, and more than 80 different alleles producing weak D phenotypes have been identified. Most alleles producing weak D phenotypes have a single missense mutation in exons corresponding to a transmembrane domain of the RhD polypeptide. We report here RHD alleles with single nucleotide mutations in Japanese accounting for weak expression of D antigen. Methods Seventy‐five blood samples with a weak D phenotype were detected from 763 408 blood donors by standard serological methods. Forty‐five of the 75 blood donors were available for RHD gene analysis by PCR and sequencing using genomic DNA and reticulocyte mRNA. Real‐time PCR was performed to estimate the relative amounts of the RHD transcripts. Results We detected 16 different RHD alleles in the 45 individuals with weak D by nucleotide sequencing; 12 were newly identified. Thirty‐two of the 45 individuals had an RHD allele with a single missense mutation, while the other 13 individuals had RHD with a c.960G>A silent mutation in exon 7. Red blood cells of these 13 individuals showed direct agglutination with anti‐D at a strength of 3+ or less. Semi‐quantitative analysis of the RHD transcripts by real‐time PCR revealed that the cDNA samples with the c.960G>A mutation showed a significant increment of exon 7 skipping compared with the common RHD . Conclusion Reduced expression of D antigen is caused not only by missense mutation of the RHD gene, but also by silent mutation that may affect splicing." @default.
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- W2115111134 date "2015-09-04" @default.
- W2115111134 modified "2023-10-09" @default.
- W2115111134 title "Weak D alleles in Japanese: a c.960G>A silent mutation in exon 7 of the<i>RHD</i>gene that affects D expression" @default.
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- W2115111134 doi "https://doi.org/10.1111/vox.12322" @default.
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