A novel RHD allele, with c.491A > T (p.Asp164Val) mutation, identified via family pedigree analysis.

A Chinese Han man was confirmed to carry an RHD variation by serological tests, and exons 1 through 10 of the RHD gene were analyzed by sequence-specific primer-polymerase chain reaction. To clarify the nature of this mutation, Sanger sequencing was used and a c.491A > T mutation was identified in exon 4. The proband inherited this mutation from his father, as determined from a family pedigree.