Rare Allele 29 at Locus D2S1338 Observed During Routine Casework in Bulgarian Population
Authors:   DNA Laboratory of the Department of Forensic Medicine and Deontology, University Multiprofile Hospital for Active Treatment Alexandrovska, 1 St. Georgi Sofiiski Blvd., Sofia 1431, Bulgaria, Iliev Plamen , Djeliova Vera ,   Department of Molecular Biology of the Cell Cycle, Institute of Molecular Biology “Acad. Roumen Tsanev”, Bulgarian Academy of Sciences, Acad. G. Bonchev Str., Bl. 21, Sofia 1113, Bulgaria, Angelova Ekaterina , Mirchev Bogdan ,   DNA Laboratory of the Department of Forensic Medicine and Deontology, University Multiprofile Hospital for Active Treatment Alexandrovska, 1 St. Georgi Sofiiski Blvd., Sofia 1431, Bulgaria, Hristov Atanas ,   DNA Laboratory of the Department of Forensic Medicine and Deontology, University Multiprofile Hospital for Active Treatment Alexandrovska, 1 St. Georgi Sofiiski Blvd., Sofia 1431, Bulgaria, Mileva Milka ,   Laboratory of Biological Response Modifiers and Pathogenesis of Viral Infections, Department of Virology, The Stephan Angeloff Institute of Microbiology, Bulgarian Academy of Sciences, Acad. Georgi Bonchev Str., Bl. 26, Sofia 1113, Bulgaria, Georgieva Mihaela ,   DNA Laboratory of the Department of Forensic Medicine and Deontology, University Multiprofile Hospital for Active Treatment Alexandrovska, 1 St. Georgi Sofiiski Blvd., Sofia 1431, Bulgaria, Peev Kamen ,   DNA Laboratory of the Department of Forensic Medicine and Deontology, University Multiprofile Hospital for Active Treatment Alexandrovska, 1 St. Georgi Sofiiski Blvd., Sofia 1431, Bulgaria, Krastev Nikolai ,   Faculty of Public Health, Health Care and Sport, South-West University “Neofit Rilski”, 66 Ivan Mihailov Str., Blagoevgrad 2700, Bulgaria, Krastev Dimo Krastev ,   Faculty of Public Health, Health Care and Sport, South-West University “Neofit Rilski”, 66 Ivan Mihailov Str., Blagoevgrad 2700, Bulgaria, Apostolov Аleksandar ,   DNA Laboratory of the Department of Forensic Medicine and Deontology, University Multiprofile Hospital for Active Treatment Alexandrovska, 1 St. Georgi Sofiiski Blvd., Sofia 1431, Bulgaria
Published: June 2023

In this work, we report a rare allele 29 at locus D2S1338, established during routine forensic practice in a case of first-degree kinship (parenthood). This rare allele variant 29 at locus D2S1338, to the best of our knowledge, is reported for the first time for the Bulgarian population. So far it has not been registered in studies of allele frequencies in the same locus for 20 population groups in Europe and Asia. The presentation of similar genotyping findings relating to rare/unexpected population genetic variation is very important for the examination and documentation of such anomalies. The analysis has been performed for 16 STR loci: D2S1338, SE33, D16S539, D18S51, TH01, D12S391, D3S1358, FGA, vWA, D21S11, D1S1656, D2S441, D8S1179, D19S433, D22S1045, D10S1248 and 2 sex determination systems – Amelogenin and Y indel, set in NGM DetectTM PCR Amplification Kit (Applied Biosystems). The use of allelic witnesses in the diagnostic practice is mandatory in the standard fragment DNA analysis. The allelic witness contains well-known preset alleles for the examined locus. Establishing alleles that are outside the factory preset is of importance for broadening the scope of the witness and heightening the accuracy of the analysis. Rare allelic variants significantly increase the strength of discrimination when DNA profiles are compared. In this regard, it is important to report any new information about the emergence of rare allele variants detected in a particular population group.