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Publication Citation: Linkage Disequilibrium Analysis of D12S391 and vWA in U.S. Population and Paternity Samples

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Author(s): Kristen E. Lewis; Carolyn R. Hill; Peter M. Vallone; John M. Butler;
Title: Linkage Disequilibrium Analysis of D12S391 and vWA in U.S. Population and Paternity Samples
Published: November 01, 2011
Abstract: Recently, the European Network of Forensic Science Institutes voted to adopt five additional STR loci (D12S391, D1S1656, D2S441, D10S1248, and D22S1045) to their existing European Standard Set of seven STRs (TH01, vWA, FGA, D8S1179, D18S51, D21S11, and D3S1358). The D12S391 and vWA loci are located 6.3 megabases (Mb) apart on chromosome 12. Ideally for use in forensic analyses, genetic markers on the same chromosome should be more than 50 Mb in physical distance in order to ensure full recombination and thus independent inheritance. The purpose of this study was to evaluate if the closely located D12S391 and vWA loci are independent and, consequently, if these loci can be included in the product rule calculation for forensic and kinship analyses. Departures from Hardy-Weinberg equilibrium and linkage disequilibrium between the D12S391 and vWA loci were tested using n = 654 unrelated U.S. African American, Caucasian, and Hispanic samples, n = 582 father/son paternity samples, and n = 27,000 simulated father/son genotypes. ....
Citation: Forensic Science International: Genetics
Volume: 5
Issue: 5
Pages: pp. 538 - 540
Keywords: Forensic science; short tandem repeat; DNA; Hardy-Weinberg equilibrium; linkage disequilibrium; kinship; D12S391; vWA; D5S818; CSF1PO
Research Areas: Forensics, Chemistry