NCJ Number
205131
Journal
Journal of Forensic Sciences Volume: 49 Issue: 2 Dated: March 2004 Pages: 222-226
Date Published
March 2004
Length
5 pages
Annotation
This study examined gastrointestinal cancer specimens from 46 males for the loss of the Y-allele of the amelogenin gene.
Abstract
Genomic instability makes DNA profiling of cancer tissue problematic. In malignant tumors, total or partial deletion of the Y chromosome has been observed. Previous research has also observed aberrations in gender determination using the amelogenin test available in forensic DNA kits. The purpose of the current study was to characterize the Y chromosomes of the cancer specimens that have a diminished amelogenin signal. The 46 specimens were screened using commercial protocols for the loss of the Y-allele of the amelogenin gene. For the cases indicating a loss of heterozygosity, a different primer was used and a set of 15 Y-STR markers were analyzed. The authors analyzed whether the diminished amelogenin signal was due to point mutation in the target sequence for the primer or was due to Y-chromosomal deletions affecting amelogenin locus and typing. Results revealed that 7 of the 46 cases had aberrations in determination of gender by the amelogenin test. However, the X-type amelogenin allele remained intact in all cases. Further, a decreased signal from the Y allele from the amelogenin marker was noted in all male tumor samples that showed a frequent autosomal loss of heterozygosity. When the alternative set of primers was used to test for the amelogenin locus, the Y-type allele showed a loss of heterozygosity in the same seven cases. However, all cancerous issues Y chromosomes appeared to be intact when amplified with 15 T-specific STR primers. The findings indicate that amelogenin-based gender determination should be carefully considered when malignant neoplastic tissue specimens are used because of the possibility of alteration. Figures, tables, references