Kinship Testing Based on SNPs Using Microarray System

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Abstract

Background: Kinship testing using biallelic SNP markers has been demonstrated to be a promising approach as a supplement to standard STR typing, and several systems, such as pyrosequencing and microarray, have been introduced and utilized in real forensic cases. The Affymetrix microarray containing 169 autosomal SNPs developed for forensic application was applied to our practical case for kinship analysis that had remained inconclusive due to partial STR profiles of degraded DNA and possibility of inbreeding within the population. Case Report: 169 autosomal SNPs were typed on array with severely degraded DNA of two bone samples, and the kinship compared to genotypes in a reference database of their putative family members. Results: Two bone samples remained unidentified through traditional STR typing with partial profiles of 10 or 14 of 16 alleles. Because these samples originated from a geographically isolated population, a cautious approach was required when analyzing and declaring true paternity only based on PI values. In a supplementary SNP typing, 106 and 78 SNPs were obtained, and the match candidates were found in each case with improved PI values than using only STRs and with no discrepant SNPs in comparison. Conclusion: Our case showed that the utility of multiple SNPs on array is expected in practical forensic caseworks with an establishment of reference database.

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Cho, S., Seo, H. J., Lee, J., Yu, H. J., & Lee, S. D. (2016). Kinship Testing Based on SNPs Using Microarray System. Transfusion Medicine and Hemotherapy, 43(6), 429–432. https://doi.org/10.1159/000446322

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