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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.
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BMC Research Notes

ISSN: 1756-0500

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