Uvodnik
Malignant Tumors and Forensics – Dilemmas and Proposals
Zoran Budimlija
; New York City Office of Chief Medical Exeminer, Department of Forensic Biology, New York, NY, USA
Connie Lu
; New York City Office of Chief Medical Exeminer, Department of Forensic Biology, New York, NY, USA
Grace Axler-DiPerte
; New York City Office of Chief Medical Exeminer, Department of Forensic Biology, New York, NY, USA
Jessica Seifarth
; PACE University, Dyson College of Arts and Sciences, Forensic Science Program, New York, NY, USA
Dorota Popiolek
; New York University School of Medicine, Department of Pathology, New York, NY, USA
Franz Fogt
; University of Pennsylvania Health System, Department of Pathology and Laboratory Medicine, Philadelphia, PA, USA
Mechthild Prinz
; New York City Office of Chief Medical Exeminer, Department of Forensic Biology, New York, NY, USA
Sažetak
Aim To evaluate the effect of genetic instability and degradation
in archived histology samples from cancerous tumors
and to investigate the validity of short tandem repeat
(STR) typing of these samples and its potential effect on
human identification.
Methods Two hundred and twenty eight slides of archival
pathology tissues from 13 different types of malignant tumors
were compared with healthy tissues from the same
individuals. DNA analysis was performed using standard
techniques for forensic STR analysis, PowerPlex®16 and
Identifiler® on 2 distinct sample sets. Genetic instability was
assessed by comparing reference tissues with cancerous
tissues derived from the same individual. Loss of heterozygosity,
a ≥50% reduction in heterozygosity ratio between
healthy and diseased samples, and microsatellite instability,
the presence of an additional allele not present in
reference tissue, were assessed. The quality of profiles obtained
with respect to completeness among the archived
samples and degradation using the 2 platforms were also
compared.
Results Profiles obtained using the Identifiler® system
were generally more complete, but showed 3-fold higher
levels of instability (86%) than those obtained using PowerPlex
® 16 (27%). Instances of genetic instability were distributed
throughout all loci in both multiplex STR systems.
Conclusion After having compared 2 widely used forensic
chemistries, we suggest individual validation of each kit for
use with samples likely to exhibit instability combined with
fixation induced degradation or artifact. A “one size fits all”
approach for interpretation of these samples among commercially
available multiplexes is not recommended.
Ključne riječi
Malignant Tumors; Loss of Heterozygosity; Microsatellite Instability; Short Tandem Repeats; Forensic Individualization; Interpretation Rules
Hrčak ID:
40670
URI
Datum izdavanja:
15.6.2009.
Posjeta: 996 *