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. 2024 Sep 24;5(4):432–438. [Article in Spanish] doi: 10.1515/almed-2024-0063

Tabla 2:

Resultados de los estudios de genotipado de nuestra población.

Gen DPYD
% rs3918290 (*2) rs67376798-DPYD*14 Rs55886062 (*13) rs75017182 G>C rs56038477 rs115232898 rs1801158 rs1801160 rs1801266 rs1801268 rs59086055 rs777425216 rs78060119 rs80081766 rs9996584
Wild type 100 99 100 96.5 96.5 100 95.3 92.9 100 100 100 100 100 100 31.8
HetMut 0 1 0 3.5 3.5 0 4.7 7.1 0 0 0 0 0 0 51.8
HomMut 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16.4
Gen GSTP Gen XPC Gen ERCC1 Gen XRCC1 Gen ERCC1 Gen SEMAC Gen C8orf34 UGT1A1
rs1695 rs2228001 rs3212986 rs25487 rs11615 rs7779029 rs1517114 rs4148323 *1/*1 39.4
Wild type 8.2 30.6 2.4 41.2 9.4 1.2 14.1 100 *28/*28 19.7
HetMut 34.1 54.1 37.6 44.7 45.9 14.1 41.2 0 *1/*28 37.9
HomMut 56.5 15.3 60.0 41.2 44.7 84.7 44.7 0 *1/*36 3.0

Los estudios se expresan en % de pacientes que expresan el genotipo salvaje (wild type), heterocigoto mutado (HetMut) y homocigoto mutado (HomMut). De modo independiente se muestran los resultados para el gen UGT1A1.