RT Journal Article
SR Electronic
T1 Amplification refractory mutation system-PCR is essential for the detection of chimaeras with a minor allele population: a case report
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 446
OP 448
DO 10.1136/jclinpath-2012-201355
VO 66
IS 5
A1 Eun Jeong Won
A1 Hye Ryoen Park
A1 Tae Sung Park
A1 Seung Hwan Oh
A1 Myung Geun Shin
A1 Jong Hee Shin
A1 Soon Pal Suh
A1 Dong Wook Ryang
A1 Jong Tae Park
A1 Duck Cho
YR 2013
UL http://jcp.bmj.com/content/66/5/446.abstract
AB 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.