Typing of XY (male) Genotype from Malignant Neoplastic Tissue by the Amelogenin-based Sex Test

    Volume 49, Issue 2 (March 2004)

    ISSN: 0022-1198

    CODEN: JFSOAD

    Published Online: 19 February 2004

    Page Count: 5


    Sajantila, A
    Laboratory of Forensic Biology, Department of Forensic Medicine, University of Helsinki, Helsinki,

    Vauhkonen, H

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

    Vauhkonen, M
    Helsinki University Hospital Jorvi, Espoo,

    Sipponen, P
    Helsinki University Hospital Jorvi, Espoo,

    (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.


    Paper ID: JFS2003132

    DOI: 10.1520/JFS2003132

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    Title Typing of XY (male) Genotype from Malignant Neoplastic Tissue by the Amelogenin-based Sex Test
    Symposium , 0000-00-00
    Committee E30