ABSTRACT: The short tandem repeats (STRs) have become an important and widely used tool in forensic casework. Clinical tissue samples are not usually employed in forensic casework, but sometimes, malignant tissue samples may be the only source of biological material for forensic investigations. However, in use of such samples, uncertainties due to microsatellite instability (MSI) and loss of heterozygosity (LOH) may be encountered. In our study of 77 human colon carcinomas tissue with the AmpFlSTR Identifiler Kit comprising 15 STR loci and the amelogenin gene, we detected four kinds of changes between normal tissue and tumor tissue including pLOH, LOH, occurrence of an additional allele (Add) and occurrence of a new allele (New) instead of that found in normal tissue. The overall variation detectable rate was 11.28%, of which pLOH was 79.1%, LOH was 7.9%, Add was 7.9% and New was 5%. Of the above four changes, the incidence rate of pLOH, LOH, Add and New was respectively 8.93%, 0.89%, 0.89% and 0.57%. The STRs mostly affected were D18S51, D5S818, FGA and D19S433. Only pLOH was found at five loci including vWA, TPOX, TH01, D13S317 and amelogenin gene. Our results demonstrate that great care should be taken in the evaluation of typing results obtained from clinical tissue specimens, in particular when no reference samples are available, because genetic instability is a very common event observed in different tumors and the STRs used for individual identification could sometimes be affected.
Forensic Science International Genetics Supplement Series 2(1):8-9.