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<3cM): 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.

Linkage and linkage disequilibrium analysis of X-STRs inItalian families

INTURRI, Serena;MENEGON, SILVIA;AMOROSO, Antonio;TORRE, Carlo;ROBINO, Carlo
2011

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<3cM): 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.
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http://www.sciencedirect.com/science?_ob=MImg&amp;_imagekey=B8CX7-51H1NWD-1-3&amp;_cdi=40079&amp;_user=525216&amp;_pii=S187249731000178X&amp;_origin=gateway&amp;_coverDate=03/31/2011&amp;_sk=999949997&amp;view=c&amp;wchp=dGLzVlz-zSkzk&amp;md5=dcc516b08a90d3c47599b9868d0e22c5&amp;ie=/sdarticle.pdf
X chromosome; Short tandem repeats; Linkage; Linkage disequilibrium; Italy
Inturri S; Menegon S; Amoroso A; Torre C; Robino C
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/83842
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