Background: Polymorphic RH is one of the most important blood group systems used for transfusion. Use of molecular technologies combined with serological testing help to identify the new RHD variants.
Methods: The traditional serological test of blood type was performed for a 28-year-old pregnant female. The result showed a weaker positive reaction result on two different microcolumn gel cards. A molecular genotyping assay was performed to get more information.
Results: The gene sequence study indicated 7 nucleotide changes in exon 7, compared with the reference allele. The third-generation sequencing using the long-read PacBio HiFi system showed these variants were all located in the same haplotype. The variant is replaced by the counterpart from RHCE gene in exon 7 with at least 37 bp. Most of its position was located in the sixth extracellular loop.
Conclusions: A novel RHD allele was identified with 7 missense mutations that is similar to RHD*DIV.4 and likely causes a partial D phenotype.
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| http://dx.doi.org/10.7754/Clin.Lab.2024.240828 | DOI Listing |
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