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Table 1 Copy-number determination in 22 AD patients referred for mutation screening.

From: Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient

  GDB:196999 (APPdint) GDB:188463 (D21S265) CNA-APP   
  alleles ratio alleles ratio E1 E7 E17
D01 185/189 1,34 243/253 1,03 2,17 2,01 2,18
D02 174/189 1,19 241/245 1,37 2,11 1,91 2,17
D03 174/189 1,18 245/247 1,57 1,93 1,87 2,07
D04 189/199 1,11 245/247 1,18 2,14 1,90 2,09
D05 174/189 1,27 245/249 0,92 2,16 2,01 2,05
D06 191 - 243/249 0,93 2,28 2,33 2,17
D07 174/189 1,24 249/253 1,02 2,00 2,04 2,08
D08 174/189 2,24 247 - 3,42 3,49 3,44
D09 189 - 241/253 1,07 2,03 2,06 2,12
D10 163/174 1,21 245/255 1,04 1,67 1,81 1,92
D11 174/189 1,00 247/255 1,19 1,78 2,23 1,92
D12 163/174 1,18 249/255 0,97 1,65 1,71 1,85
D13 189 - 247/251 1,45 1,90 1,83 2,06
D14 174/178 1,35 245/249 1,38 1,74 1,55 1,78
D15 189 - 249/253 1,53 2,15 2,01 1,95
D16 163/189 1,30 247 - nd nd nd
D17 189 - 241/247 1,24 1,52 1,63 1,71
D18 174/191 1,21 247/249 1,63 1,54 1,81 1,79
D19 178/189 1,33 247/255 1,12 1,54 1,58 1,63
D20 178/189 0,95 247/249 1,67 1,93 2,27 2,18
D21 189 - 247/249 1,73 1,92 2,22 2,30
D22 189/193 1,36 247/249 1,70 2,02 2,02 2,00
  1. DNA samples are numbered D01-D22. From left; microsatellite-analysis for marker GDB:196999 (APP-dint) and GDB:188463 (D21S265). The column "alleles" for each of the two markers gives the allele size in base-pairs. Also, for the two markers, and given in the column "ratio", are the ratios between the peak-areas under each alleles major peak. Relative copy-number values from the copy-number assays (CNA-APP) targeting APP-exon 1 (E1), exon 7 (E7) and exon 17 (E17). The values in each column are calculated as relative to trisomy 21-DNA control and given as mean of tetraplicates. The abbreviation "nd" stands for not determined. Bold figures indicate ratio and copy-number of samples with suspected copy-number variation.