Molecular bases of unexpressed RHD alleles in Chinese D- persons

Transfusion. 2009 Aug;49(8):1655-60. doi: 10.1111/j.1537-2995.2009.02181.x.


Background: The aim of this study was to use a systematic survey to analyze RHD alleles in Chinese D- donors who do not express D antigen or who lack functional RhD protein.

Study design and methods: A total of 733 D-Chinese donors, not including Del phenotypes, were investigated by RHD polymorphism–specific polymerase chain reaction (PCR), Rhesus box PCR-PstI digestion, and RHD sequencing. The frequencies of identified alleles were calculated.

Results: Three genetic mechanisms and eight alleles were found associated with the Chinese D- phenotype. One new RHD/CE hybrid allele and one novel mutation were also found. The rates of total deletion and the most frequent hybrid allele RHD(1)-CE(2-9)-D(10) were similar to those found in previous studies. A previously reported mutation RHD(711delC) was found to be the predominant cause of aberrant RHD alleles.

Conclusion: Informative population-based data for improving molecular diagnostic strategies for Chinese D- persons are suggested by this study. This type of systematic knowledge is important for the development of typing and transfusion strategies for the Chinese population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Asian People
  • Blood Donors*
  • China
  • Female
  • Gene Expression Regulation / genetics*
  • Humans
  • Male
  • Mutation*
  • Rh-Hr Blood-Group System / biosynthesis
  • Rh-Hr Blood-Group System / genetics*


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