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

Zhongguo Shi Yan Xue Ye Xue Za Zhi

Yunnan Kunming Blood Center, Kunming 650106, Yunnan Province,

Published: June 2023

AI Article Synopsis

  • The study aimed to analyze the genetic makeup of a blood donor with the Del phenotype in Yunnan.
  • Researchers identified the Rh serological phenotype and used specific techniques, including PCR-SSP typing and sequencing, to investigate the donor's genotype.
  • Results revealed a significant 1,003 bp deletion in the donor's DNA that affected exon 9, confirming that the donor exhibits the Del type due to this genetic deletion.

Article Abstract

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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Source
http://dx.doi.org/10.19746/j.cnki.issn.1009-2137.2023.03.033DOI Listing

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