Korean J Leg Med.  2016 Feb;40(1):27-31. 10.7580/kjlm.2016.40.1.27.

Mixture Patterned Short Tandem Repeat Profile in a Perimortem Transfused Patient

• Seo HJ
• Cho S
• Lee JH
• Lyoo SH
• Park S
• Lee SD

• KMID: 2155728
• DOI: http://doi.org/10.7580/kjlm.2016.40.1.27

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.

Keyword

Perimortem; Blood transfusion; DNA profiling; Microsatellite repeats

MeSH Terms

Autopsy
Blood Transfusion
DNA
DNA Fingerprinting
Humans
Microsatellite Repeats*
Tissue Donors
DNA

Figure

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  Fig. 1. An example of the patient's consensus profile from a muscle tissue sample.

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  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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  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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