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Journal List > Korean J Leg Med > v.40(1) > 1087987

Seo, Cho, Lee, Lyoo, Park, and Lee: Mixture Patterned Short Tandem Repeat Profile in a Perimortem Transfused Patient

Abstract

Recently, it has been reported that transfused patients can generate admixture-like genetic profiles. As genetic material of the donor can survive for a reasonable time after transfusion, the recipient's genomic DNA is likely to have a mixture pattern. An autopsy case of a man transfused perimortem generated a mixture patterned short tandem repeat profile. Notably, the patient was transfused mostly with nuclear-deficient cells, limiting the donor genetic material available for the recipient. As a result, mixture-like patterns were observed consistently, regardless of change in input DNA content; the sample DNA content, which was serially diluted, ranged from 1 ng to 0.0625 ng. The distributions of foreign peaks appeared to be irreproducible, showing stochastic behaviors throughout the genotyped results. This study suggests that a cautious approach is required when genotyping of a patient who has undergone recent transfusion. One must consider the possibility of obtaining a mixture patterned profile in such patients, and therefore, choose parenchymal organs or tissues for reliable results.

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kjlm-40-27-f1.tif
Fig. 1.
An example of the patient's consensus profile from a muscle tissue sample.
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kjlm-40-27-f2.tif
Fig. 2.
Overview of foreign peaks detected in blood DNA sample diluted to 0.5 ng (A) and 0.125 ng (B).
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kjlm-40-27-f3.tif
Fig. 3.
An example of alleles at two loci obtained from 1 ng of muscle DNA sample as reference (A), and 0.5 ng of blood DNA samples in duplicates (B, C).
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