Typing of XY (male) genotype from malignant neoplastic tissue by the amelogenin-based sex test.
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.
Vauhkonen
Hanna
H
Laboratory of Forensic Biology, Department of Forensic Medicine, University of Helsinki, Kytösuontie 11, PO box 40, 00014 Helsinki, Finland.
Hedman
Minttu
M
Vauhkonen
Matti
M
Sipponen
Pentti
P
Sajantila
Antti
A
D053523:Amelogenin; D016022:Case-Control Studies; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D017931:DNA Primers; D003746:Dental Enamel Proteins / Q000235:genetics*; D018732:Forensic Anthropology; D005770:Gastrointestinal Neoplasms / Q000235:genetics*; D005838:Genotype; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D010641:Phenotype; D012732:Sex Determination Analysis; D020080:Tandem Repeat Sequences; D014083:Tooth Germ
D053523:Amelogenin; D017931:DNA Primers; D003746:Dental Enamel Proteins