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Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 31(3): 843-849, 2023 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-37356949

RESUMO

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.


Assuntos
Doadores de Sangue , Sistema do Grupo Sanguíneo Rh-Hr , Humanos , Sistema do Grupo Sanguíneo Rh-Hr/genética , China , Fenótipo , Éxons , Genótipo , Alelos
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