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Genet. mol. res. (Online) ; 6(1): 1-7, 2007. tab
Article Dans Anglais | LILACS | ID: lil-440615

Résumé

Thirty-seven 45 X Turner syndrome patients with confirmed peripheral blood lymphocyte karyotype were initially selected to determine the origin of the retained X chromosome and to correlate it with their parents’ stature. Blood samples were available in 25 families. The parental origin of the X chromosome was determined in 24 informativefamilies through the analysis of the exon 1 - CAG repeat variation of the androgen receptor gene. In 70.8% of the cases, the retained X chromosome was maternal in origin and 29.2% was paternal. When we classified the patients according to maternal (Xm) or paternal (Xp) X chromosome, there was a positive correlation between patients’ and maternal heights only in the Xm group. There was no correlation with paternal height in either group, and a significant correlation with target height was only observed in the Xm group. In conclusion, maternal height is the best variable correlating with the height of 45 X Turner syndrome patients who retain the maternal X chromosome, suggesting a strong influence of genes located on the maternal X chromosome on stature.


Sujets)
Humains , Mâle , Femelle , Taille/génétique , Chromosomes X humains/génétique , Parents , Syndrome de Turner/génétique , Exons , Phénotype , Réaction de polymérisation en chaîne , Récepteurs aux androgènes/génétique , Répétitions de trinucléotides
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