Molecular basis of weak D in Taiwanese

Ann Hematol. 2003 Oct;82(10):617-20. doi: 10.1007/s00277-003-0711-4. Epub 2003 Jul 31.

Abstract

Two genes, RHD and RHCE, encode the antigens of the RH blood group system. The weak D phenotype is caused by many different RHD alleles encoding aberrant RhD proteins, resulting in distinct serologic phenotypes and anti-D immunization. We analyzed seven weak D phenotypes excluding D(el), using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing methods to detect the changes of all ten RHD exons. The results show that there are four types of weak D in Taiwanese: one case each for CGG to CAG mutation at codon 10, GTG to ATG mutation at codon 174, and GTG to GAG mutation at codon 270, and four cases for GGT to GAT mutation at codon 282. In conclusion, we present the first data of a molecular basis of weak D in Taiwanese, which suggest a clinically relevant potential for anti-D immunization and may improve transfusion strategy in weak D Taiwanese patients.

MeSH terms

  • DNA Primers / genetics
  • Exons / genetics
  • Humans
  • Phenotype
  • Point Mutation / genetics
  • Polymerase Chain Reaction / methods
  • Polymorphism, Restriction Fragment Length
  • Rh-Hr Blood-Group System / genetics*
  • Sequence Analysis, DNA
  • Taiwan

Substances

  • DNA Primers
  • Rh-Hr Blood-Group System