Abstract
Due to the advantages of single-nucleotide polymorphisms (SNPs) in forensic science, many forensic SNP panels have been developed. However, the existing SNP panels have a problem that they do not reflect allele frequencies in Koreans or the number of markers is not sufficient to perform paternity testing. Here, we filtered candidate SNPs from the Ansan-Ansung cohort data and selected 200 SNPs with high allele frequencies. To reduce the risk of false inclusion and false exclusion, we calculated likelihood ratios of alleged father-child pairs from simulated families when the alleged father is the true father, the close relative of the true father, and the random man. As a result, we estimated that 160 SNPs were needed to perform paternity testing. Furthermore, we performed validation using Twin-Family cohort data. When 160 selected SNPs were used to calculate the likelihood ratio, paternity and non-paternity were accurately distinguished. Our set of 160 SNPs could be useful for paternity testing in Koreans.
Highlights
In modern forensic science, DNA profiling has become an important tool for human identification and paternity testing
Advances in sequencing technologies have enabled the production of large amounts of single-nucleotide polymorphism (SNP) data, and this led to a discussion about the availability of SNP markers in the field of forensic science
SNPforID panel consists of 52 loci, which is an insufficient number of markers to perform paternity testing of duo cases [8]
Summary
In modern forensic science, DNA profiling has become an important tool for human identification and paternity testing. More SNPs are needed to approach the match probability of STR panels since bi-allelic. SNPs are less polymorphic than STRs. Krawczak [6] and Gill [7] reported that 50-60 SNPs with allele frequencies close to 0.5 are required to have the same discriminatory power as STR panels. Ayres [8] suggested that the number of SNPs with allele frequencies in the range [0.3, 0.5] required for the standard trio (father-mother-child) case and duo (father-child) case is 50-60 and 70-80, respectively. These studies assumed the use of independent markers. Since the use of markers that are not independently transmitted can affect the results of the forensic analysis, linkage should be considered in forensic calculations [9, 10]
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