Neurofibromatosis type 1-associated tumours ... - Human Genomics
Neurofibromatosis type 1-associated tumours ... - Human Genomics
Neurofibromatosis type 1-associated tumours ... - Human Genomics
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638 # HENRY STEWART PUBLICATIONS 1479–7364. HUMAN GENOMICS. VOL 5. NO 6. 623–690 OCTOBER 2011<br />
Table S1. Continued<br />
Patient Germline mutation<br />
ID<br />
Type of<br />
germline<br />
mutation<br />
LOH LOH markers Predicted<br />
extent of<br />
LOH<br />
T473.14 Yes J1J2, EV120, IVS38,<br />
3 0 NF1, EW207,<br />
D17S949, D17S1822<br />
T473.15 Yes J1J2, EV120, IVS38,<br />
3 0 NF1<br />
T473.16 Yes J1J2, EV120, IVS38,<br />
3 0 NF1, EW207,<br />
D17S949,<br />
D17S1822<br />
NF1 and 3 0<br />
flanking<br />
region<br />
Evidence<br />
for genomic<br />
deletion?<br />
MLPA/CGH<br />
arrayCGH/<br />
FISH<br />
MLPA<br />
Probable<br />
mechanism<br />
Mitotic<br />
recombination<br />
NF1 MLPA Mitotic<br />
recombination<br />
NF1 and 3 0<br />
flanking<br />
region<br />
MLPA<br />
Mitotic<br />
recombination<br />
T473.21 Yes J1J2, EV120 NF1 MLPA Mitotic<br />
recombination<br />
T473.35 Yes EV120, IVS38 Intragenic<br />
NF1<br />
T473.30 Yes J1J2, EV120, IVS38,<br />
3 0 NF1, EW207,<br />
D17S949<br />
NF1 and 3 0<br />
flanking<br />
region<br />
T473.32 Yes J1J2, EV120 Intragenic<br />
NF1<br />
T473.34 Yes EV120, IVS38 Intragenic<br />
NF1<br />
T225.1 Ex10b deletion [MLPA] Single exon<br />
deletion<br />
T225.3 LOH<br />
T68.2 Deletion exons 10b-19b Partial<br />
gene<br />
deletion<br />
MLPA<br />
MLPA<br />
MLPA<br />
MLPA<br />
Mitotic<br />
recombination<br />
Mitotic<br />
recombination<br />
Mitotic<br />
recombination<br />
Mitotic<br />
recombination<br />
No.<br />
samples<br />
with<br />
LOH<br />
Reference<br />
LOH NIA Unpublished<br />
data, Cardiff<br />
Yes UT172 - I38 206,207 Exon 5-3 0<br />
region<br />
T68.3 Yes UT172 - I38 206,207 Exon 5-3 0<br />
region<br />
NIA<br />
Unpublished<br />
data, Cardiff<br />
Continued<br />
REVIEW Laycock-van Spyk et al.
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