Chimerism and mosaicism are important causes of ABO phenotype and genotype discrepancies

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Immunohematology

American National Red Cross

Subject: Medical Laboratory Technology

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ISSN: 0894-203X
eISSN: 1930-3955

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VOLUME 22 , ISSUE 4 (December 2006) > List of articles

Chimerism and mosaicism are important causes of ABO phenotype and genotype discrepancies

Duck Cho / Jin Sol Lee / Mark Harris Yazer / Jong Won Song / Myung Geun Shin / Jong Hee Shin / Soon Pal Suh / Mee Jeong Jeon / Ji Young Kim / Jong Tae Park / Dong Wook Ryang

Keywords : chimerism, mosaicism, ABO, genotype, phenotype, discrepancy

Citation Information : Immunohematology. Volume 22, Issue 4, Pages 183-187, DOI: https://doi.org/10.21307/immunohematology-2019-378

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Published Online: 15-April-2020

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ABSTRACT

Discrepancies between blood group genotype and RBC phenotype are important to recognize when implementing DNA-based blood grouping techniques. This report describes two such cases involving the ABO blood group in the Korean population. Propositus #1 was a 22-year-old healthy man undergoing pretransfusion testing for minor surgery. Propositus #2 was a 23year-old male blood donor. RBCs from both propositi were determined to be group AB and demonstrated unusual agglutination patterns on forward typing,which were inconsistent with their ABO genotype determined by allele-specific (AS) PCR. RBCs from propositus #1 demonstrated mixed field agglutination with both anti-A and -B, while RBCs from propositus #2 demonstrated mixed field only with anti-A reagents. Both had B/O genotypes byAS-PCR. Cloning and sequencing of ABO exons 6 and 7 revealed three alleles in both propositi: propositus #1: A102/B101/O04; propositus #2:A102/B101/O01. A panel of nine short-tandem repeat (STR) loci was tested on DNA extracted from blood, buccal mucosal cells, and hair from the propositi and on DNA isolated from their parents’ blood. In all tissues tested from propositus #1, three loci demonstrated a double paternal and a single maternal DNA contribution,indicating that he was a chimera or a mosaic; in those from propositus # 2, one STR locus demonstrated a double paternal DNA contribution, indicating that he was a tetragametic chimera. Chimerism and mosaicism are uncommon but important causes of ABO genotype and phenotype discrepancies. The evaluation of patients and donors with unusual or unexpected serology in pretransfusion testing and consensus ABO alleles may include the evaluation of STR loci to detect these phenomena.

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