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  • Title: Typing of XY (male) genotype from malignant neoplastic tissue by the amelogenin-based sex test.
    Author: Vauhkonen H, Hedman M, Vauhkonen M, Sipponen P, Sajantila A.
    Journal: J Forensic Sci; 2004 Mar; 49(2):222-6. PubMed ID: 15027535.
    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.
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