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.
Keywords: RhD; exon; genotype; mutation; phenotype.
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