title: Combined effects of multiple linked loci on pairwise sibling tests.
abstract: The advanced multiplex STR system, PowerPlex Fusion, includes four linked locus pairs. The conventional Identifiler system has one pair of linked loci. Therefore, sibling tests conducted using the advanced system might be more affected by linkage than those conducted using the conventional system. This study simulated single and combined effects of the four linked locus pairs on pairwise sibling tests. Simulated genotypes of 100,000 pairs of full siblings and nonrelatives were constructed according to allele frequencies of the Japanese population. The single linkage effect was evaluated for simulated genotype data by calculating both the likelihood ratio accounting for the linkage between two loci and the likelihood ratio ignoring the linkage. The combined effect was obtained by multiplication of the respective single effects. Furthermore, we investigated the possibility that ignoring the linkage affects subject classification by introducing a scale of the likelihood ratio into sibling tests. The single effect in the Identifiler analysis was 0.645-1.746 times if the linkage was ignored. Overestimations and underestimations were predictable from the identical-by-state status at two linked loci. The combined effect in the PowerPlex Fusion analysis was 0.217-7.390 times. Ignoring the linkage rarely caused a false conclusive or inconclusive result, even from PowerPlex Fusion analysis. Application of the advanced system improved sibling tests considerably. The additional examined loci were more beneficial than the adverse effect of the linkage derived from the four linked locus pairs.
authors.affiliation: Department of Forensic Medicine, Tokai University School of Medicine, Shimokasuya 143, Isehara, Kanagawa, 259-1193, Japan.|Scientific Crime Laboratory, Kanagawa Prefectural Police, Yamashita-cho 155, Naka-ku, Yokohama, 231-0023, Japan.
authors.forename: Tomonori
authors.initials: T
authors.lastname: Tamura
authors.affiliation: Department of Forensic Medicine, Tokai University School of Medicine, Shimokasuya 143, Isehara, Kanagawa, 259-1193, Japan. osawa@is.icc.u-tokai.ac.jp.
authors.forename: Motoki
authors.initials: M
authors.lastname: Osawa
authors.affiliation: Department of Forensic Medicine, Tokai University School of Medicine, Shimokasuya 143, Isehara, Kanagawa, 259-1193, Japan.
authors.forename: Yu
authors.initials: Y
authors.lastname: Kakimoto
authors.affiliation: Department of Forensic Medicine, Tokai University School of Medicine, Shimokasuya 143, Isehara, Kanagawa, 259-1193, Japan.
authors.forename: Eriko
authors.initials: E
authors.lastname: Ochiai
authors.affiliation: Scientific Crime Laboratory, Kanagawa Prefectural Police, Yamashita-cho 155, Naka-ku, Yokohama, 231-0023, Japan.
authors.forename: Takanori
authors.initials: T
authors.lastname: Suzuki
authors.affiliation: Scientific Crime Laboratory, Kanagawa Prefectural Police, Yamashita-cho 155, Naka-ku, Yokohama, 231-0023, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Nakamura
mesh_terms: D016172:DNA Fingerprinting; D005787:Gene Frequency; D008040:Genetic Linkage; D056426:Genetic Loci; D006801:Humans; D016013:Likelihood Functions; D018895:Microsatellite Repeats; D060885:Multiplex Polymerase Chain Reaction; D035781:Siblings
keywords: Identical-by-state; Likelihood ratio; Linkage; PowerPlex Fusion; Short tandem repeat; Sibling test