F00574 003 f004
Normal seąuence DNA
mRNA Amino acid
Point mutations
[a] Mis-sense DNA
mRNA
Amino acid
(U Nonsense DNA
mRNA
Amino acid
Splice site DNA
mRNA
Amino acid
Exon 1 Intron Exon 2
...ATG GCC gtgagc...ag GGG CAG TGA.
GG) (CAG) UGA... G Q [Śtop
.ATG GCC gtgagc...ag CGG CAG TGA.. ^UG)(GcS| £gg' (£ag) UGA...
M A R Q [Śtop
.ATG GCC gtgagc...ag GGG TAG TGA.. (AUG)(GCC) (GGG) (UAG) UGA... MAG [Stop
.ATG GCC gagagc...ag GGG CAG TGA.
(aug)(gcc) (gag) (agcL.
M
R
A...
insertions and deletions
[d] Insertion
DNA
mRNA
...ATG TGT GCT TAG GCC gtgagc...ag GGG CAG TGA. ...AUG (UGU) 0) 0) GCC GGG CAG UGA
Amino acid
M
[Stop
EJ Deletion
DNA
mRNA
Amino acid
...ATG GCC gtgagc...ag GGG CAG TGA... ...AUG GCC UGA...
M A [Stop
© Elsevier. Boon et al.: Davidson's Principles and Practice of Medicine 20e - www.studentconsult.com
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