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RHD gene polymorphisms among RhD-negative Chinese in Taiwan
1Department of Clinical Pathology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Lin-Kou, Taiwan. suncgj@cguaplo.cgu.edu.tw
Vox Sanguinis
|September 24, 1998
Summary
The weak D phenotype Del is common in apparently RhD-negative Chinese, often due to intact RHD genes. This study clarifies RhD gene structures in this population, revealing three distinct RhD-negative categories.
Area of Science:
- Genetics
- Immunology
- Molecular Biology
Background:
- The weak D phenotype Del contributes to rare anti-D hemolytic disease of the newborn in Chinese populations.
- Genomic structure of the Del phenotype is understudied despite Rh blood group advancements.
Purpose of the Study:
- To explore the genomic structure of the RhD gene in apparently RhD-negative Chinese individuals in Taiwan.
- To characterize the genetic basis of the Del phenotype in this population.
Main Methods:
- Genomic DNA from 230 apparently RhD-negative Chinese samples was analyzed.
- Four polymerase chain reaction (PCR)-based RhD typing methods were employed.
- Southern blot analysis was performed using RHD cDNA fragments as probes.
Main Results:
- 32.6% of samples exhibited the Del phenotype, all with an intact RHD gene.
- 67.4% were genuinely RhD-negative; 63.0% had complete RHD gene deletion.
- 4.3% of RhD-negative individuals showed partial RHD gene deletion with a preserved 3' noncoding region.
Conclusions:
- Three classes of RhD-negative polymorphisms were identified in Taiwanese Chinese: Del (weak RhD expression), genuinely RhD-negative (partial RHD preservation), and genuinely RhD-negative (total RHD deletion).
- Further molecular studies are needed to understand the weak RHD gene expression mechanism in Del individuals.