Anomalous Gender Assignation by the Amelogenin Sex Gene Test
Keywords:
Forensic science, Gender identification, Sex typing, Amelogenin gene, locus, PCRAbstract
Accurate human gender identification, based on the amelogenin sex gene/locus, has crucial applications in many scientific disciplines such as medical/prenatal diagnosis of sex-linked disorders and forensics. Molecular genetics techniques, especially typing for a length variation in the X–Y homologous amelogenin gene (AMELX and AMELY), are used for human gender assignation. Amelogenin sex gene/locus test is an integral part of most PCR multiplex kits that are employed for DNA profiling. However, it was reported that normal males being typed as females with this test. It was also reported a number of amelogenin negative (or AMELY null) males in various populations. Therefore, the current study was taken to determine the frequency of AMELY null/ negative males in Libya. Forensic anthropology analysis showed that human remains are for males. Here we report on the first known case, in the Libyan population, of an amelogenin sex test failure on a phenotypically normal male. The frequency of AMELY negative is rare in Libya, with an overall frequency of 0.1175%. These results suggest that the determination of gender, based on the amelogenin test, should be interpreted cautiously. Although AMELY null males are extremely rare in most populations, typing an additional gender-determining locus should be considered in forensics where the reference sample is of unknown gender.
Keywords: Forensic science; Gender identification; Sex typing; Amelogenin gene/locus; FTA; STR; PCR.
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References
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