Table 1 |
|||||||
|
Copy-number determination in 22 AD patients referred for mutation screening. |
|||||||
|
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 |
|
|
|||||||
|
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. |
|||||||
|
Thonberg et al. BMC Research Notes 2011 4:476 doi:10.1186/1756-0500-4-476 |
|||||||
