Analysis of patrilineal relationship in Russian Federation using several commercial Y-STR multiplex panels

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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 mismatches – 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).

Introduction

Isolated mismatches at STR loci are commonly observed between participants of kinship testing, including patrilineal kinship. These inconsistences can be due either to mutations or to absence of the expected relationship between the alleged relatives. The purpose of the present study was to investigate how widespread are single inconsistencies in cases of non-exclusion of patrilineal relationship in a Russian population using three commercial Y-STR marker systems.

Section snippets

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.

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,

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).

Table 2 presents the degree of relatedness between participants of each comparison. For Yfiler® in two cases information on the number of meioses was not available and these cases were removed from analysis.

Conclusions

The highest number of single inconsistencies observed in our study was for the subgroup tested with Yfiler® Plus. Loci DYS449, DYS460, DYS518, DYS570, and YGATAH4 showed increased mutation frequency with the highest observed in DYS570 (2.56*10−2) while lowest mutation frequency was found in loci DYS389I, DYS390, DYS393 and DYS439 (2.19*10−3).

Conflict of interest

None.

Acknowledgement

The authors would like to thank I. Kalambet, N. Kalambet, G. Kostinyuk, V. Smelkova, and L. Steverake for laboratory assistance with DNA analysis.

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