Contents lists available at ScienceDirect Forensic Science International: Genetics Supplement Series journal homepage: www.elsevier.com/locate/fsigss Analysis of patrilineal relationship in Russian Federation using several commercial Y-STR multiplex panels V. Zavarin, S. Efremova, E. Krassotkin, T. Makarova, S. Vinogradova, V. Smirnova, V. Goryashchenko, A. Semikhodskii ⁎ LLC Medical Genomics, 48 Zheljabova St, Tver 170100, Russian Federation ARTICLE INFO Keywords: Patrilineal relationship Y-STR Kinship testing Russia ABSTRACT We have analysed 285 cases of patrilineal relationship between individuals from various regions of the Russian Federation. Y-STR analysis was performed using Yfiler ® ,Yfiler ® Plus (both Applied Biosystems, USA), and COrDYS-Y (GORDIZ Ltd, Russia) genotyping systems. The number of meioses between the individuals varied from 1 to 3 (based on self-declaration by the study participants). In 235 cases either a complete match of Y-STR profiles between alleged relatives (86.0%) or mismatches at no more than 3 loci (14.0%) were observed. In 50 cases, more than 3 mismatches between participants were detected and these samples where not taken for further analysis. When using Yfiler ® (n = 119) a complete match between participants was observed in 91.6% cases, 1 mismatch – in 7.6% cases, and 3 mismatches – in 0.8% cases. When using Yfiler ® Plus (n = 58) a complete match between participants was observed in 79.3% cases, 1 mismatch – in 20.7% cases, and 2 mis- matches – in 3.4% cases. In cases analysed by COrDYS-Y (n = 58) a complete match between participants was observed in 81.0% cases, 1 mismatch – in 13.8% cases, 2 mismatches – in 3.5% cases, and 3 mismatches – in 1.7% cases. All mismatches detected during the present study were by one STR repeat with a single exception of locus DYS627 (Yfiler ® Plus) where a mismatch of two repeats was found in one case. Overall, mismatches were present at all loci studied with exception of DYS392, DYS437, DYS438, DYS447, DYS448, DYS481 and DYS533. The highest mutation frequency was observed for locus DYS570 (0.0256). 1. Introduction Isolated mismatches at STR loci are commonly observed between participants of kinship testing, including patrilineal kinship. These in- consistences can be due either to mutations or to absence of the ex- pected relationship between the alleged relatives. The purpose of the present study was to investigate how widespread are single incon- sistencies in cases of non-exclusion of patrilineal relationship in a Russian population using three commercial Y-STR marker systems. 2. Materials and methods 2.1. Population We have analysed 285 cases of patrilineal relationship between individuals from various regions of the Russian Federation. The number of meioses between the individuals varied from 1 to 3 (based on self- declaration by the study participants). For all cases, prior consent for DNA analysis was obtained from the participants. 2.2. Genotyping DNA from buccal swabs was extracted using Buccal Swabs DNA Extraction Kit (Lytech, Russia). Y-STR genotyping was performed with AmpFℓSTR ® Yfiler ® PCR Amplification Kit, AmpFℓSTR ® Yfiler ® Plus PCR Amplification Kit (Applied Biosystems, USA) and COrDYS-Y (Gordiz Ltd, Russia) kits. PCR was performed using Applied Biosystems ® 2720 and SureCycler 8800 (Agilent Technologies, USA) thermal cyclers. The products of amplification were analysed on a 3500 Genetic Analyzer (Applied Biosystems) instrument. Genotypes were assigned using GeneMapper ® ID-X 1.4 (Applied Biosystems) software. 3. Results and discussion In 50 cases, more than 3 mismatches between participants were identified and these samples where not taken for further analysis. In 235 cases either a complete match of Y-STR profiles between alleged relatives (86.0%) or mismatches at no more than 3 loci (14.0%) were observed (Table 1). http://dx.doi.org/10.1016/j.fsigss.2017.09.203 Received 4 September 2017; Accepted 24 September 2017 ⁎ Corresponding author. E-mail address: andrei@medicalgenomics.ru (A. Semikhodskii). Forensic Science International: Genetics Supplement Series 6 (2017) e529–e530 Available online 25 September 2017 1875-1768/ © 2017 Published by Elsevier Ireland Ltd. T