Abstract
Twenty X-chromosomal short tandem repeat (STR) loci were typed in 80 families of Italian
descent, composed by mother and two or more sons, for a total of 93 meiosis. The analyzed
X-STR panel included six clusters of closely linked markers (each spanning < 3 cM): DXS10135–DXS10148–DXS8378 (Xp22); DXS7132–DXS10074–DXS10079 (Xq12); DXS6801–DXS6809–DXS6789
(Xq21); DXS7424–DXS101 (Xq22); DXS10103–HPRTB–DXS10101 (Xq26); DXS8377–DXS10134–DXS7423–DXS10146
(Xq28).
Recombination fractions between pairs of markers calculated by pedigree analysis were
compared with those obtained from the second-generation Rutgers combined linkage-physical
map of the human genome. The observed differences confirm that recombination is not
homogeneous along the X chromosome and that the conventional subdivision of X-STRs
in four groups of completely unlinked markers cannot be regarded as true.
Significant linkage disequilibrium was found between markers DXS6801 and DXS6809 (p = 0.017). The effect on likelihood calculations of inferring haplotype frequencies from
allele distributions rather than haplotype count in the relevant population was evaluated.
Keywords
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Article info
Publication history
Published online: November 19, 2010
Identification
Copyright
© 2010 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
