RHD 1227A is an important genetic marker for RhD(el) individuals

Am J Clin Pathol. 2004 Aug;122(2):193-8. doi: 10.1309/3XMF-2NV5-707T-JE7X.

Abstract

Approximately 30% of apparently Rh- Taiwanese people actually were RhD(el), a rare variant of the Rh system that might carry a grossly intact RHD gene. Several studies have indicated that the RhD(el) trait might be generated by multiple molecular mechanisms. In this study, a total of 294 Taiwanese serologically RhD- blood donors were tested for Rh phenotypes and RHD genotypes. Among them, total RHD deletion, partial RHD gene, and RhD(el) were found in 185 (62.9%), 15 (5.1%), and 94 (32.0%), respectively. The 1227A allele and exon 9 of the RHD gene were found in all 94 RhD(el) donors. The Ccee was the most prevalent phenotype in the RhD(el) group (78/94 [83%]), and the ccee phenotype was highly prevalent in the true D- group (87.6%). RHD 1227A can be used as an important and useful genetic marker for RhD(el). It can be detected easily by a simple, rapid, specific sequence primer-polymerase chain reaction method.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Blood Grouping and Crossmatching*
  • DNA Primers
  • Genetic Markers*
  • Genotype
  • Humans
  • Phenotype
  • Polymorphism, Genetic*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Rh-Hr Blood-Group System / genetics*
  • Taiwan

Substances

  • DNA Primers
  • Genetic Markers
  • Rh-Hr Blood-Group System
  • Rho(D) antigen