Professional Documents
Culture Documents
Support Material
2
The Code
3
The Code
4
Concepts
5
Concepts
Point Mutations
Substitutions
Missense – AA substitutions
...CTG UGU... Cysteine
‘Silent’
...CTG UGC... Cysteine
...CTG UGG... Tryptophan
Nonsense – premature Stop codon
...CTG UGC... Cysteine
...CTG UGA... STOP
6
Concepts
Ins/del
Insertion
...CTG UGC...
...CTG UGCTGG...
Deletion
...CTG
UGC...
...CTG U...
In-frame/out-frame - (not) leads to a shift in the reading frame
7
Modes of Inheritance
Autosomal Dominant
8
Modes of Inheritance
Autosomal Recessive
9
Modes of Inheritance
X-Linked (recessive/dominant)
10
Modes of Inheritance
Mitochondrial
11
Modes of Inheritance
Imprinting
12
Pedigree
Symbols
Rules
Landscape
Proband/consultant
Sibship order
Generation zones
Lines
Medical Termination
of Pregnancy 12Wk
anecephaly