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Using X-Chromosomal Markers in Relationship Testing: Calculation of Likelihood Ratios Taking Both Linkage and Linkage Disequilibrium Into Account

NCJ Number
236683
Journal
Forensic Science International: Genetics Volume: 5 Issue: 5 Dated: November 2011 Pages: 506-511
Author(s)
Andreas O. Tillmar; Thore Egeland; Bertil Lindblom; Gunilla Holmlund; Petter Mostad
Date Published
November 2011
Length
6 pages
Annotation
This article presents an implementation of an efficient model for calculating likelihood ratios (LRs) with markers on the X-chromosome which are linked and in linkage disequilibrium (LD). Furthermore, the model was applied on several cases based on data from the eight X-chromosomal loci included in the Mentype() Argus X-8 (Biotype).
Abstract
X-chromosomal markers in forensic genetics have become more widely used during recent years, particularly for relationship testing. Linkage and linkage disequilibrium (LD) must typically be accounted for when using close X-chromosomal markers. Thus, when producing the weight-of-evidence, given by a DNA-analysis with markers that are linked, the normally used product rule is invalid. Using a simulation approach the current study showed that the use of X-chromosome data can offer valuable information for choosing between the alternatives in each of the cases studied, and that the LR can be high in several cases. The study demonstrated that when linkage and LD were disregarded, as opposed to taken into account, the difference in calculated LRs could be considerable. When these differences were large, the estimated haplotype frequencies often had a strong impact and the authors present a method to estimate haplotype frequencies. The authors' conclusion is that linkage and LD should be accounted for when using the tested set of markers, and the used model is an efficient way of doing so. (Published Abstract)