[RHD Gene Analysis of A Blood Donor with Del Phenotype].

OBJECTIVE

To analyze the RHD genotype of a blood donor with Del phenotype in Yunnan.

METHODS

Rh serological phenotype was identified. RHD gene was detected by PCR-SSP typing, and its 10 exons were sequenced. Exon 9 was amplified for sequencing and analysis. RHD zygosity was detected.

RESULTS

The Rh phenotype of this specimen was CcDelee. Genomic DNA exhibited a 1 003 bp deletion spanning from intron 8, across exon 9 into intron 9. The deletion breakpoints occurred between two 7-bp short tandem repeat sequences. There was no variation in the sequences of the remaining exons. The Rh hybridization box test showed that there was one RHD negative allele.

CONCLUSION

This specimen is Del type caused by deletion of RHD exon 9.