1. VI-II.1 VI-II.2 VI-II.3 VI-II.4 VI-II.5
Figure e-1: FISH images of lymphoblast cells of individuals from family VI carrying a the APP-locus duplication.
VI-II.1
RP11-15D13
CTB-63H24
VI-II.2
RP11-15D13
CTB-63H24
VI-II.3
RP11-15D13
CTB-63H24
VI-II.4
RP11-15D13
CTB-63H24
VI-II.5
RP11-15D13
CTB-63H24
Interphase FISH analysis of APP duplication. RP11-15D13 containing the 5’-end of the APP gene was labeled in Cy3-dUTP (red) and CTB-63H24 containing the telomere of chromosome 21 was labeled in FITC-dUTP (green). With the exception of #118 (VI-II.5) all subjects show evidence for an APP duplication. #116 (VI-II.4) represents the individual carrying three copies of APP but without clinical evidence for AD at last examination (see Fig. 1).