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Malignant tumors and forensics--dilemmas and proposals
Zoran Budimlija1, Connie Lu, Grace Axler-DiPerte
1Department of Forensic Biology, New York City Office of Chief Medical Examiner, 421 East 26th Street, New York, NY 10016, USA. zbudimlija@ocme.nyc.gov
Croatian Medical Journal
|May 30, 2009
Summary
Genetic instability in archived tumor samples impacts short tandem repeat (STR) typing, affecting human identification. Validation of forensic STR kits is crucial due to varying performance with degraded DNA.
Area of Science:
- Forensic genetics
- Molecular biology
- Cancer research
Background:
- Archived histology samples from cancerous tumors can exhibit genetic instability and degradation.
- Short tandem repeat (STR) typing is a key forensic technique for human identification.
- The integrity of DNA in archival samples affects the reliability of STR profiles.
Purpose of the Study:
- To evaluate genetic instability and degradation in archived tumor histology samples.
- To assess the validity of STR typing for human identification using these compromised samples.
- To compare the performance of two common forensic STR analysis systems.
Main Methods:
- Analysis of 228 archival tumor tissue slides from 13 cancer types against healthy controls.
- DNA extraction and STR profiling using PowerPlex16 and Identifiler chemistries.
- Assessment of genetic instability (loss of heterozygosity, microsatellite instability) and sample degradation.
Main Results:
- Identifiler system yielded more complete profiles but showed significantly higher instability (86%) than PowerPlex 16 (27%).
- Genetic instability occurred across all loci in both STR systems.
- Degradation and fixation artifacts impacted DNA profile quality in archived samples.
Conclusions:
- Individual validation of STR kits is recommended for samples with likely instability and degradation.
- A universal interpretation approach for all commercial multiplex STR systems is not advised for such challenging samples.
- Forensic geneticists must consider sample quality and kit-specific performance for reliable human identification.
