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[Correlation between special A/O genotype and the O phenotype].

Hong Luo1, Runqing Zhang, Zhijian Liao

  • 1Institute of Clinical Transfusion Medicine, Guangzhou Blood Center, Guangzhou, Guangdong 510095, China. tigerluo@126.com.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
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PubMed
Summary

Certain A/O genotypes can result in a group O blood type, presenting as reduced or absent anti-A activity. This finding highlights the importance of genetic analysis for accurate blood grouping in individuals with atypical serological results.

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Area of Science:

  • Immunogenetics
  • Blood Group Serology

Background:

  • The ABO blood group system is crucial for transfusion medicine.
  • Atypical serological findings in blood grouping can lead to misidentification and transfusion reactions.

Purpose of the Study:

  • To investigate the relationship between a specific A/O genotype and the expression of the O blood group phenotype.
  • To understand the serological characteristics associated with atypical A/O genotypes.

Main Methods:

  • Utilized polymerase chain reaction-sequence specific primer (PCR-SSP) assay for ABO genotyping.
  • Performed serological tests including forward/reverse typing and H antigen determination.
  • Conducted genomic DNA analysis by sequencing ABO gene exons.

Main Results:

  • Seven samples with A/O genotype were identified, all initially typed as group O.
  • Reduced or absent anti-A activity was observed in reverse typing for most samples.
  • Genotyping revealed specific alleles such as ABO*Ael02 and ABO*O02 as major contributors.

Conclusions:

  • A specific A/O genotype can lead to the O phenotype due to non-expression of the A antigen.
  • Reduced or absent anti-A isoagglutinin activity is a key serological marker for this group.
  • Accurate blood grouping for individuals with atypical serological results requires both serological testing and genomic DNA analysis.