نتایج جستجو برای: dxs548

تعداد نتایج: 12  

Journal: :Human molecular genetics 1996
E E Eichler J N Macpherson A Murray P A Jacobs A Chakravarti D L Nelson

To understand the origins of the fragile X syndrome and factors predisposing alleles to instability and hyperexpansion, we have compared the haplotype (using markers FRAXAC1, FRAXAC2, and DXS548) and AGG interspersion patterns of the FMR1 CGG repeat for 214 normal and 16 premutation chromosomes. Association testing between interspersion pattern and haplotype reveals a highly significant (P < 0....

Journal: :Current Genomics 2008
M.I Arrieta J.M Ramírez M Télez P Flores B Criado M Barasoain I Huerta A.J González

Fragile X Syndrome (FXS) is associated with an unstable CGG repeat sequence in the 5' untranslated region in the first exon of the FMR1 gene which resides at chromosome position Xq27.3 and is coincident with the fragile site FRAXA. The CGG sequence is polymorphic with respect to size and purity of the repeat. Interpopulation variation in the polymorphism of the FMR1 gene and consequently, in th...

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