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

Zhongguo shi yan xue ye xue za zhi(2023)

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Abstract
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.
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Key words
rhd gene analysis,blood donor,del phenotype
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