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

Transfusion. 2021 Jun;61(6):E46-E48. doi: 10.1111/trf.16377. Epub 2021 Mar 21.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Exons
  • Female
  • Humans
  • Male
  • Pedigree
  • Point Mutation
  • Rh-Hr Blood-Group System / genetics*

Substances

  • Rh-Hr Blood-Group System
  • Rho(D) antigen