Table 5 PCR products obtained by spanning
From: Exon duplications in the ATP7A gene: Frequency and Transcriptional Behaviour
Transcripts in patients with atypical MD or OHS. | ||
|---|---|---|
Patient | Transcripts | Predicted effect on reading frame |
P 1: Ex3_4dup | I: 2-3-4-3-4-5 | I:Out of reading frame |
II:2-3-4-4-5 | II: In reading frame | |
III:2-3-4-5 | III: wild-type | |
P2: Ex5_6dup | I: 4-5-6-5-6-7 | I:Out of reading frame |
II:4-5-6-7 | II: wild-type | |
P3: Ex6_7dup | I:5-6-7-6-7-8 | I:Out of reading frame |
II:5-6-6-7-8 | II:Out of reading frame | |
III:5-6-7-8 | III: wild-type | |
P 4: Ex13_14dup | I:12-13-14-13-14-15 | I:Out of reading frame |
II:12-13-14-14-15 | II:In reading frame | |
III:12-13-14-15 | III: wild-type | |
P5: Ex16_17dup | I:15-16-17-16-17-18 | I:Out of reading frame |
II:15-16-16-17-18 | II:In reading frame | |
III:15-16-17-18 | III: wild-type | |
Transcripts in patients with Classic MD. | ||
Patient | Transcripts | Predicted effect on reading frame |
P7: Ex3_5dup | I: 2-3-4-5-3-4-5-6 | I:Out of reading frame |
II:2-3-4-5-5-6 | II: In reading frame | |
III:2-3-4-5 | III: wild-type | |
P8: Ex5_7dup | I: 4-5-6-7-5-6-7-8-9 | I:Out of reading frame |
II:6-7-8-9 | II: wild-type | |
P13: Ex7_12dup | I:7-8-9-10-11-12-7-8-9-10-11-12-13-14 | I:Out of reading frame |
II: 7-8-9-10-8-9-10-11-12 | II:In reading frame | |
III: 7-8-9-10-11-12 | III: wild-type | |
P16: Ex8_12dup | I:7-8-9-10-11-12-8-9-10-11-12-13-14 | I:Out of reading frame |
II: 7-8-9-10-8-9-10-11-12-13-14 | II:In reading frame | |
III: 7-8-9-10-10-11-12-13-14 | III:In reading frame | |
IV: 7-8-9-10-11-12-13-14 | IV: wild-type | |