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Korean J Leg Med > Volume 40(1); 2016 > Article
Korean Journal of Legal Medicine 2016;40(1):27-31.
DOI: https://doi.org/10.7580/kjlm.2016.40.1.27    Published online February 29, 2016.
Mixture Patterned Short Tandem Repeat Profile in a Perimortem Transfused Patient.
Hee Jin Seo, Sohee Cho, Ji Hyun Lee, Sung Hee Lyoo, Sohyung Park, Soong Deok Lee
1Department of Forensic Medicine, Seoul National University College of Medicine, Seoul, Korea. sdlee@snu.ac.kr
2Institute of Forensic Science, Seoul National University College of Medicine, Seoul, Korea.
3Medical Examiner's Office, National Forensic Service, Wonju, Korea.
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.
Key Words: Perimortem, Blood transfusion, DNA profiling, Microsatellite repeats


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