Performance of the SNPforID 52 SNP-plex assay in paternity testing

TY - JOUR

T1 - Performance of the SNPforID 52 SNP-plex assay in paternity testing

AU - Børsting, Claus

AU - Sanchez, Juan Jose

AU - Hansen, Hanna E

AU - Hansen, Anders J

AU - Bruun, Hanne Q

AU - Morling, Niels

N1 - Keywords: Child; DNA Fingerprinting; Denmark; Emigrants and Immigrants; Fathers; Female; Humans; Male; Minisatellite Repeats; Mothers; Mutation; Paternity; Polymorphism, Single Nucleotide; Somalia; Tandem Repeat Sequences

PY - 2008

Y1 - 2008

N2 - The performance of a multiplex assay with 52 autosomal single nucleotide polymorphisms (SNPs) developed for human identification was tested on 124 mother-child-father trios. The typical paternity indices (PIs) were 10(5)-10(6) for the trios and 10(3)-10(4) for the child-father duos. Using the SNP profiles from the randomly selected trios and 700 previously typed individuals, a total of 83,096 comparisons between mother, child and an unrelated man were performed. On average, 9-10 mismatches per comparison were detected. Four mismatches were genetic inconsistencies and 5-6 mismatches were opposite homozygosities. In only two of the 83,096 comparisons did an unrelated man match perfectly to a mother-child duo, and in both cases the PI of the true father was much higher than the PI of the unrelated man. The trios were also typed for 15 short tandem repeats (STRs) and seven variable number of tandem repeats (VNTRs). The typical PIs based on 15 STRs or seven VNTRs were 5-50 times higher than the typical PIs based on 52 SNPs. Six mutations in tandem repeats were detected among the randomly selected trios. In contrast, there was not found any mutations in the SNP loci. The results showed that the 52 SNP-plex assay is a very useful alternative to currently used methods in relationship testing. The usefulness of SNP markers with low mutation rates in paternity and immigration casework is discussed.

AB - The performance of a multiplex assay with 52 autosomal single nucleotide polymorphisms (SNPs) developed for human identification was tested on 124 mother-child-father trios. The typical paternity indices (PIs) were 10(5)-10(6) for the trios and 10(3)-10(4) for the child-father duos. Using the SNP profiles from the randomly selected trios and 700 previously typed individuals, a total of 83,096 comparisons between mother, child and an unrelated man were performed. On average, 9-10 mismatches per comparison were detected. Four mismatches were genetic inconsistencies and 5-6 mismatches were opposite homozygosities. In only two of the 83,096 comparisons did an unrelated man match perfectly to a mother-child duo, and in both cases the PI of the true father was much higher than the PI of the unrelated man. The trios were also typed for 15 short tandem repeats (STRs) and seven variable number of tandem repeats (VNTRs). The typical PIs based on 15 STRs or seven VNTRs were 5-50 times higher than the typical PIs based on 52 SNPs. Six mutations in tandem repeats were detected among the randomly selected trios. In contrast, there was not found any mutations in the SNP loci. The results showed that the 52 SNP-plex assay is a very useful alternative to currently used methods in relationship testing. The usefulness of SNP markers with low mutation rates in paternity and immigration casework is discussed.

U2 - 10.1016/j.fsigen.2008.03.007

DO - 10.1016/j.fsigen.2008.03.007

M3 - Journal article

C2 - 19083839

SN - 1872-4973

VL - 2

SP - 292

EP - 300

JO - Forensic Science International: Genetics

JF - Forensic Science International: Genetics

IS - 4

ER -