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RHD gene polymorphism among RhD-negative Han Chinese
Qun Xu1, Jianye Zhang, Qinyou Wang
1Central Laboratory, Blood Center of Shandong Province, Jinan 250014, China. xuqun55@hotmail.com
Chinese Medical Journal
|October 23, 2003
Summary
Genetic variations in the RHD gene create RhD-negative blood types in Han Chinese. A novel haplotype with a nonfunctional RHD gene was identified, potentially impacting RhD-negative classifications.
Area of Science:
- Genetics
- Immunology
- Molecular Biology
Background:
- The Rh blood group system exhibits significant polymorphism, crucial for transfusion medicine.
- Rh antigens are encoded by RHD and RHCE genes.
- RhD-negative status arises from diverse, ethnicity-dependent genetic mechanisms.
Purpose of the Study:
- To analyze RHD gene exons in 131 RhD-negative Han Chinese blood donors.
- To investigate the genomic structure of the RHD gene in this population.
Main Methods:
- Polymerase chain reaction using sequence-specific primers (PCR-SSP) was employed.
- Specific RHD exons (2, 3, 4, 5, 6, 7, 9, 10) and RHCE exons (1, 2, 5) were amplified.
- Intron 4 of RHD and RHCE genes was also examined.
Main Results:
- Among 131 RhD-negative individuals, 63.4% lacked the targeted RHD exons, while 19.9% possessed all examined RHD exons.
- 16.8% had at least one RHD exon, with RhD-negative phenotypes associated with Rh CC or Cc, but not cc.
- Observed RhD-negative phenotypes included ccee, Ccee, ccEe, CcEe, and CCee.
Conclusions:
- Three distinct classes of RhD-negative polymorphisms were identified in Han Chinese.
- A novel RhD-negative associated haplotype, comprising a normal RHCE allele and a nonfunctional RHD gene, was suggested.
- Re-evaluation of RhD-negative blood group definitions in Chinese populations may be warranted.