Multiplex STR and mitochondrial DNA testing forparaffin embedded specimen of healthy andmalignant tissue: Interpretation issues

摘要

STR typing results for 70 pairs of healthy vs. malignant tissues demonstrate the occurrence of microsatellite instability (MSI) and loss of heterozygosity (LOH) in the tumor samples In order to not misinterpret degradation effects as LOH, this study recommends to only interpret alleles <350 bp with a peak intensity >300 RFU mtDNA data for the same samples did not reveal increased mutation rates but for many cases were affected by DNA contamination. The mtDNA assay can be valuable in confirming an inclusion. Overall these sample types can still be used for identification purposes since any observed discrepancies can be explained.