Erroneous gender identification by the amelogenin sex test

Area of Science:

• Forensic Science
• Genetics
• Molecular Biology

Background:

• The amelogenin gene (AMEL) is widely used for human sex determination in various applications, including forensics and diagnostics.
• Standard genetic testing kits rely on amelogenin gene polymorphisms to differentiate between male and female DNA.
• Accurate sex identification is crucial for legal, medical, and personal identification purposes.

Purpose of the Study:

• To report the first documented failure of the amelogenin sex test in an Israeli male.
• To investigate the implications of amelogenin test discrepancies in forensic and diagnostic contexts.
• To emphasize the importance of cautious interpretation of amelogenin-based sex determination results.

Main Methods:

• DNA analysis using AmpFlSTR SGM plus and GenePrint kits.
• Phenotypic assessment of the individual.
• Karyotyping of the blood sample to rule out chromosomal abnormalities.

Main Results:

• The individual, a phenotypically normal male, was incorrectly identified as female by both tested genetic kits.
• Karyotyping revealed no chromosomal abnormalities (e.g., XXY, XXX), confirming a typical male karyotype.
• This represents the first reported instance of amelogenin sex test failure in the Israeli population.

Conclusions:

• Amelogenin gene-based sex determination is not infallible and can yield false-negative or false-positive results.
• Clinical and forensic interpretations of amelogenin test results require careful consideration, especially in ambiguous cases.
• Further research may be needed to understand the underlying mechanisms of such test failures and to refine sex determination methodologies.