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.
| Original language | English |
|---|---|
| Pages (from-to) | 152-154 |
| Number of pages | 3 |
| Journal | Forensic Science International: Genetics |
| Volume | 5 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Mar 2011 |
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Keywords
- Italy
- Linkage
- Linkage disequilibrium
- Short tandem repeats
- X chromosome
ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Genetics
Cite this
Linkage and linkage disequilibrium analysis of X-STRs in Italian families. / Inturri, Serena; Menegon, Silvia; Amoroso, Antonio; Torre, Carlo; Robino, Carlo.
In: Forensic Science International: Genetics, Vol. 5, No. 2, 03.2011, p. 152-154.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Linkage and linkage disequilibrium analysis of X-STRs in Italian families
AU - Inturri, Serena
AU - Menegon, Silvia
AU - Amoroso, Antonio
AU - Torre, Carlo
AU - Robino, Carlo
PY - 2011/3
Y1 - 2011/3
N2 - 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.
AB - 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.
KW - Italy
KW - Linkage
KW - Linkage disequilibrium
KW - Short tandem repeats
KW - X chromosome
UR - http://www.scopus.com/inward/record.url?scp=79952708062&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79952708062&partnerID=8YFLogxK
U2 - 10.1016/j.fsigen.2010.10.012
DO - 10.1016/j.fsigen.2010.10.012
M3 - Article
C2 - 21087904
AN - SCOPUS:79952708062
VL - 5
SP - 152
EP - 154
JO - Forensic Science International: Genetics
JF - Forensic Science International: Genetics
SN - 1872-4973
IS - 2
ER -