Summary of Mutations

Summary of mutation analysis performed in our group

Molecular analysis of OTC deficiency
Molecular analysis by SSCP/DNA sequencing 885
Apparent deleterious mutations 357 (40.3%)
Enzyme assays performed 404
Carrier testing performed 642
Prenatal diagnosis 110

Mutation information
Large deletions 10
1-5 base indels 22
Splice sites 32 (13 exonic)

CpG "hot spots"
CpG dinucleotide "hot spots" 78 (21.7%)
R320X 2 R141Q 6
R277W 6 R129H 3
R277Q 1 R92X 2
P225L 2 R92Q 4
A209V 3 R40H 5
T178M 1 R26Q 4
R141X 1 R23X 4

Base substitution information
Substitutions 220 (61.3%)
G-->A 75 (34.1%) T-->A 4 (1.8%)
G-->C 13 (5.9%) T-->C 17 (7.7%)
G-->T 15 (6.8%) T-->G 13 (5.9%)

A-->C 6 (2.7%) C-->A 12 (5.5%)
A-->G 18 (8.2%) C-->G 5 (2.3%)
A-->T 14 (6.4%) C-->T 43 (19.5%)