An RHD gene variant, common in southern Chinese Han, involves a short 688 bp deletion and a long 21.8 kb insertion in the RHD exon 10 non-coding region, affecting the accuracy of red cell genotyping.

Abstract excerpt

BACKGROUND: Accurate typing of the D antigen is critical to provide guidance for blood transfusion and safe management of Rh-incompatible pregnancies. RHD genotyping assays have been widely adopted to improve D variant detection, especially for common RHD alleles with missense variants and RHD-CE-D hybrids. Few structural variants of the RHD gene are known to involve large fragments of non-RH sequences, despite...

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