Background
Results
Real-time quantitative PCR results
Patients | No. | 22q11.2 region qPCR markers results (ΔKCt) | |||||
---|---|---|---|---|---|---|---|
D22S181
|
PRODH
|
TUPLE1
|
COMT
|
D22S936
|
VPREB1
| ||
Not deleted
| 88 | 0.007 ± 0.123 | -0.009 ± 0.006 | -0.018 ± 0.076 | 0.039 ± 0.009 | -0.002 ± 0.062 | 0.082 ± 0.008 |
22q11.2
hemideletion
| 6 | -0.004 ± 0.140 |
-0.982 ± 0.039
|
-1.076 ± 0.014
|
-0.958 ± 0.154
|
-0.887 ± 0.047
| 0.080 ± 0.024 |
Patient no.4 | 1 | 0.106 ± 0.014 |
-0.992 ± 0.025
|
-1.037 ± 0.069
|
-0.994 ± 0.104
|
-0.918 ± 0.001
|
-1.050 ± 0.186
|
VPREB1 hemideletion
| 5 | 0.067 ± 0.087 | 0.005 ± 0.098 | 0.038 ± 0.095 | 0.005 ± 0.115 | 0.020 ± 0.110 |
-1.093 ± 0.042
|
Fluorescence in situhybridization and Array CGH on index case DNA
VPREB1genotype results
Primer Sets | Primer Sequences | Amplicon Size | Genomic Location of Amplicon |
---|---|---|---|
Set 1
| AGAGCTCTGCATGTCTGCAC | 695 | 22599205-22599900 (Chr 22) |
TTCCCTAATGCAGTCTCCAA | |||
Set 2
| TCCTGCTCATGCTGTTTGTC | 487 | 22599242-22599729 (Chr 22) |
CTGCAGTGGGTTCCATTTCT |