Highlights
- •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.
Abstract
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.
Keywords
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Article info
Publication history
Published online: October 23, 2014
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© 2014 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
