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[Study on polymorphism of D gene exons among RhD-negative Chinese Han population]
1Shandong Province Blood Center, Jinan, Shandong, 250014 P.R. China. sdbc@public.jn.sd.cn
Objective:
To explore the genomic structure of 8 exons in D gene of RhD(-) Chinese Han population.
Methods:
Polymerase chain reaction-sequence specific primers(PCR-SSP) were used to study genomic DNA from 50 samples of RhD(-) Chinese Han donors. Exons 2, 3, 4, 5, 6, 7, 9, 10 of RHD gene and exons 1, 2, 4, 5 of RHCE gene were specifically amplified, also intron 4 of them was amplified.
Results:
Phenotypes of the 50 RhD(-) donors were: 22 ccdee, 22 Ccdee, 3 CcdEe, 3 CcdEe. The 8 exons of RHD gene were completely absent in 25 donors with ccdee or ccdEe phenotype, while polymorphisms of D gene exons were found in 25 donors with Ccdee or CcdEe phenotype: the presence of all 8 exons of D gene in 9 donors, the absence of the 8 exons in 7 donors, the presence of exon 2 in 5 donors, the presence of exon 6 in 3 donors and the presence of exons 2, 6, 10 in 1 donor were demonstrated.
Conclusion:
Polymorphisms of RHD gene exons were present among RhD(-) Chinese Han blood donors. The 8 exons of RHD gene were completely absent in donors with Rhesus cc phenotype, while 5 polymorphisms of RHD gene exons were found in donors with Rhesus Cc phenotype. The discrepancy of the RHD gene in RhD(-) individuals between Chinese Hans and Caucasians indicates that care should be exercised by clinicians in the use of the RhD genotyping results.