Zhongguo shi yan xue ye xue za zhi · 2023
[RHD Gene Analysis of A Blood Donor with Del Phenotype].
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Wang Zhi-Jiang, Peng Mo-Zhen, Zhang Zhi-Hui, Li Qian, Li Qiu-Jin, Su Pin-Can
Аннотация
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.
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.