Abstract
X-chromosomal short tandem repeats (X-STR) have proven to be informative and useful
in complex relationship testing. The main feature of X-STR markers, compared to autosomal
forensic markers, is that all loci are located on the same chromosome. Thus, linkage
and linkage disequilibrium may occur. The aim of this work was to study population
genetic parameters of eight X-STR markers, located in four linkage groups. We present
haplotype frequencies, based on 718 Swedish males, for the four linkage groups included
in the Argus X-8 kit. Forensic efficiency parameters have been calculated as well
as the allelic association between the tested markers for detection of linkage disequilibrium.
To study the occurrences of recombination between the loci, both Swedish and Somali
families were typed. A mathematical model for the estimation of recombination frequencies
is presented and applied on the family samples. Our study showed that the tested markers
all have highly informative forensic values and that there is a significant degree
of linkage disequilibrium between the STR markers within the four linkage groups.
Furthermore, based on the tested families, we also demonstrated that two of the linkage
groups are partially linked. A consequence of these findings is that both linkage
and linkage disequilibrium should be accounted for when producing likelihood ratios
in relationship testing with X-STR markers.
Keywords
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Article info
Publication history
Published online: October 27, 2008
Accepted:
September 16,
2008
Received in revised form:
August 21,
2008
Received:
April 30,
2008
Identification
Copyright
© 2008 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.