Amelogenin test abnormalities revealed in Belarusian population during forensic DNA analysis
| Autor: | Victorya Korban, Alena Shyla, Sergey R. Borovko, Alexandra Borovko |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Forensic Genetics
Male Republic of Belarus XX male syndrome Population Locus (genetics) Biology Pathology and Forensic Medicine law.invention law Genetics medicine Humans Allele education AMELX Polymerase chain reaction Chromosome Aberrations education.field_of_study Amelogenin DNA medicine.disease Null allele Genetics Population |
| Zdroj: | Forensic Science International: Genetics. 15:98-104 |
| ISSN: | 1872-4973 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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