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Amplification refractory mutation system-PCR is essential for the detection of chimaeras with a minor allele population: a case report
  1. Eun Jeong Won1,
  2. Hye Ryoen Park1,
  3. Tae Sung Park2,
  4. Seung Hwan Oh3,
  5. Myung Geun Shin1,
  6. Jong Hee Shin1,
  7. Soon Pal Suh1,
  8. Dong Wook Ryang1,
  9. Jong Tae Park4,5,
  10. Duck Cho1,5
  1. 1Department of Laboratory Medicine, Chonnam National University Medical School & Chonnam National University Hwasun Hospital, Hwasun, South Korea
  2. 2Department of Laboratory Medicine, School of Medicine, Kyung Hee University, Seoul, South Korea
  3. 3Department of Laboratory Medicine, Inje University College of Medicine, Busan, South Korea
  4. 4Department of Forensic Medicine, Chonnam National University Medical School, Gwangju, South Korea
  5. 5Research Institute of Medical Sciences, Chonnam National University, Gwangju, South Korea
  1. Correspondence to
    Professor Duck Cho, Department of Laboratory Medicine, Chonnam National University Medical School & Chonnam National University Hwasun Hospital, 160 Ilsimri, Hwasun-eup, Hwasun-gun, Jeollanam-do 519-809, South Korea; dcho{at}chonnam.ac.kr

Abstract

Blood chimaera is a rare but important issue for immunohaematology laboratories. Several molecular approaches, such as ABO genotyping, human leucocyte antigen (HLA) typing and DNA short tandem repeat (STR) analysis, have been used to identify chimaerism. Unfortunately, the minor allele population can be overlooked by PCR-based methods, which preferentially amplify the major allele population. A case with AweakB (AwB), demonstrating a mixed-field pattern, was sent to our laboratory for further evaluation. Direct sequencing of ABO exons 6 and 7 revealed a B101/O02 genotype. Analysis of the 12 STR loci and HLA typing did not provide any evidence of chimaerism. However, amplification refractory mutation system (ARMS)-PCR identified the minor A102 allele in addition to B101/O02. Three alleles of the chimaera were confirmed by cloning and sequencing. Thus, ARMS-PCR is essential, especially in the case of a chimaera with a minor allele population.

  • Pcr
  • Laboratory Tests
  • Transfusion

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