Objective: To analyze the genotype of a blood donor with Del phenotype in Yunnan.
Methods: Rh serological phenotype was identified. gene was detected by PCR-SSP typing, and its 10 exons were sequenced. Exon 9 was amplified for sequencing and analysis. zygosity was detected.
Results: The Rh phenotype of this specimen was CcDee. 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 negative allele.
Conclusion: This specimen is Del type caused by deletion of exon 9.
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http://dx.doi.org/10.19746/j.cnki.issn.1009-2137.2023.03.033 | DOI Listing |
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