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Analysis of APP Locus Duplication in Lymphoblast Cells of Family VI via Interphase FISH

This research details the interphase FISH (Fluorescence In Situ Hybridization) analysis of lymphoblast cells from individuals in Family VI, specifically examining duplication at the APP locus. The probe RP11-15D13, which includes the 5’-end of the APP gene, was labeled with Cy3-dUTP (red), while the probe CTB-63H24, containing the telomere of chromosome 21, was labeled with FITC-dUTP (green). Remarkably, all individuals except #118 exhibited evidence of APP duplication. Notably, individual #116 carried three copies of APP but showed no clinical signs of Alzheimer’s Disease (AD) at the last examination.

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Analysis of APP Locus Duplication in Lymphoblast Cells of Family VI via Interphase FISH

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  1. VI-II.2 VI-II.1 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. RP11-15D13 CTB-63H24 RP11-15D13 CTB-63H24 RP11-15D13 CTB-63H24 RP11-15D13 CTB-63H24 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).

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