Research Article| Volume 15, P98-104, March 2015

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Amelogenin test abnormalities revealed in Belarusian population during forensic DNA analysis

Published:October 23, 2014DOI:


      • Dropouts of AMELX or AMELY alleles were detected in males of Belarusian origin.
      • Amelogenin deficiency cases were obtained from forensic casework and paternity testing.
      • AMELY-DYS458 deletion pattern was identified in AMELY-negative males.
      • Cases of SRY-positive XX male syndrome were found among AMELY-negative males.
      • AMELX or AMELY null alleles can be caused by primer-binding site mutations.


      Study of gender markers is a part of routine forensic genetic examination of crime scene and reference samples, paternity testing and personal identification. Amelogenin locus as a gender marker is included in majority of forensic STR kits of different manufacturers. In current study we report 11 cases of amelogenin abnormalities identified in males of Belarusian origin: 9 cases of AMELY dropout and 2 cases of AMELX dropout. Cases were obtained from forensic casework (n = 9) and paternity testing (n = 2) groups. In 4 out of 9 AMELY-negative cases deletion of AMELY was associated with the loss of DYS458 marker. In addition, we identified 3 males with SRY-positive XX male syndrome. Deletion of the long arm of the Y-chromosome was detected in two XX males. Loss of the major part of the Y-chromosome was identified in the third XX male. The presence of two X-chromosomes in XX males was confirmed with the use of Mentype® Argus X-8 PCR Amplification Kit. AMELY null allele observed in 2 out of 9 cases with AMELY dropout can be caused by mutation in the primer-binding site of AMELY allele. Primer-binding site mutations of AMELX can result in AMELX dropout identified in 2 cases with amplification failure of AMELX. Our study represents the first report and molecular genetic investigation of amelogenin abnormalities in the Belarusian population.


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