ISSN: 0022-1198
CODEN: JFSCA
Published Online: 19 February 2004
Page Count: 5

Typing of XY (male) Genotype from Malignant Neoplastic Tissue by the Amelogenin-based Sex Test
Sajantila, A
Laboratory of Forensic Biology, Department of Forensic Medicine, University of Helsinki,

Vauhkonen, H

Hedman, M
Laboratory of Forensic Biology, Department of Forensic Medicine, University of Helsinki,

Vauhkonen, M
Helsinki University Hospital Jorvi,

Sipponen, P
Helsinki University Hospital Jorvi,

(Received 13 April 2003; accepted 18 October 2003)

Abstract

DNA profiling of a cancer tissue can be problematic because of genomic instability. Here we have analyzed gastrointestinal cancer specimens from 46 males, of which seven (15%) showed aberrations in determination of gender by the widely used amelogenin test. The X-type amelogenin allele in all cases remained intact. All male tumor samples showing frequent autosomal loss of heterozygosity had a decreased signal of the Y allele from the amelogenin marker. When tested with an alternate set of primers for the amelogenin locus, the Y-type allele showed loss of heterozygosity in the same seven cases. However, when amplified with 15 Y-specific STR primers, all the cancerous tissue Y chromosomes seemed to be intact. These results indicate when malignant neoplastic tissue specimens are used, that amelogenin-based gender determination should be carefully interpreted.

Keywords:
forensic science, forensic pathology, amelogenin, Y-chromosome, gender determination, short tandem repeat

Paper ID: JFS2003132
DOI: 10.1520/JFS2003132
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