title: Amelogenin test abnormalities revealed in Belarusian population during forensic DNA analysis.
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.
authors.affiliation: State Committee of Forensic Examinations of the Republic of Belarus, Volodarskiy str. 2a, 220030 Minsk, Belarus. Electronic address: s_borovko@mail.ru.
authors.forename: Sergey
authors.initials: S
authors.lastname: Borovko
authors.affiliation: State Committee of Forensic Examinations of the Republic of Belarus, Volodarskiy str. 2a, 220030 Minsk, Belarus.
authors.forename: Alena
authors.initials: A
authors.lastname: Shyla
authors.affiliation: State Committee of Forensic Examinations of the Republic of Belarus, Volodarskiy str. 2a, 220030 Minsk, Belarus.
authors.forename: Victorya
authors.initials: V
authors.lastname: Korban
authors.affiliation: State Committee of Forensic Examinations of the Republic of Belarus, Volodarskiy str. 2a, 220030 Minsk, Belarus.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Borovko
mesh_terms: D053523:Amelogenin / Q000235:genetics*; D002869:Chromosome Aberrations; D004247:DNA / Q000235:genetics*; D053803:Forensic Genetics; D005828:Genetics, Population; D006801:Humans; D008297:Male; D002094:Republic of Belarus
chemical_list: D053523:Amelogenin; D004247:DNA
keywords: Amelogenin X (AMELX); Amelogenin Y (AMELY); Deletion; Null allele; Short tandem repeat (STR); XX male syndrome