F00574 003 f004

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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