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Affection Status - Main Disease = Uncertain
Affection Status - Main Disease = Affected
1000
1001
+
100
101
OI
102
103
104
0001
105
106
107
108
109
110
OI
OI
OI
?
9000
9001
Ol
9002
Ol
9003
Ol
9004
9005
Ol
9006
9007
OI
FIGURE 31.2 Pedigree of primary open angle glaucoma and OI type I multiplex family from Duke University Eye Center. Darkly shaded
subjects have primary open angle glaucoma. Subjects without shading do not have glaucoma. OI patients are labeled. In the second generation,
all OI patients also had glaucoma.
(A)
(B)
FIGURE 31.3 Glaucomatous optic neuropathy and visual field loss in an OI type I patient from Duke University Eye Center. Aside from
the normal, physiologic “blind spot” (dark oval on right side of image, more darkly shaded regions in the visual field correspond to decreased
peripheral vision (left). The corresponding optic nerve head has increased cupping characteristic of glaucoma (right).
a frameshift and premature termination codon in exon
37. The second transcript used a cryptic acceptor site in
exon 37 that resulted in deletion of 28nt from the mRNA.
This product was also unstable. Unexpectedly, the third
transcript used a cryptic donor site in the upstream exon
36 that deleted 44nt from this exon, spliced to the cryp-
tic acceptor site in exon 37 and deleted another 28nt.
The resulting product from the 72nt deletion was small
in quantity. Although it was stable, there was none seen
upon screening in cultured fibroblasts.
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