Mutations

Any Changes to DNA sequence

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2009-2010

Mutations
Changes to DNA sequence are called mutations
change the DNA
changes the mRNA
may change protein
may change trait

DNA

TACGCACATTTACGTACG

mRNA

AUGCGUGUAAAUGCAUGC

protein

aa aa aa aa aa aa aa

trait
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Types of mutations

Changes to the letters (A,C,T,G bases) in

the DNA

point mutation
change to ONE letter (base) in the DNA
may cause change to protein, may not

frameshift mutation
Addition/insertion of a base/bases in the DNA
sequence
deletion of a base/bases in the DNA
both of these shift the DNA so it changes how
the codons are read

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Point Mutations

One base change

can change the meaning of the whole protein

THEFATCATANDTHEREDRATRAN
THEFATCARANDTHEREDRATRAN
OR
THEFATCATENDTHEREDRATRAN
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Point Mutations

Missense mutation = changes amino acid

AUGCGUGUAUACGCAUGCGAGUGA
MetArgValTyrAlaCysGluStop
AUGCGUGUAUACGUAUGCGAGUGA
MetArgValTyrValCysGluStop

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Sickle cell anemia

Hemoglobin protein in red blood cells

strikes 1 out of 400 African Americans
limits activity, painful & may die young

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Point Mutations

Silent mutation = no change to protein

AUGCGUGUAUACGCAUGCGAGUGA
MetArgValTyrAlaCysGluStop
AUGCGUGUAUACGCUUGCGAGUGA
MetArgValTyrAlaCysGluStop

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Point Mutations

Nonsense mutation = change to STOP

AUGCGUGUAUACGCAUGCGAGUGA
MetArgValTyrAlaCysGluStop
AUGCGUGUAUAAGCAUGCGAGUGA
MetArgValStop

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Frameshift Mutations

Add or delete one or more bases

changes the meaning of the whole protein

THEFATCATANDTHEREDRATRAN
THEFATCANTANDTHEREDRATRAN
OR
THEFATCAANDTHEREDRATRAN
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Frameshift Mutations

Addition = add one or more bases

AUGCGUGUAUACGCAUGCGAGUGA
MetArgValTyrAlaCysGluStop
AUGCGUGUAUACGUCAUGCGAGUGA
MetArgValTyrValMetArgValA

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Frameshift Mutations

Deletion = lose one or more bases

AUGCGUGUAUACGCAUGCGAGUGA
MetArgValTyrAlaCysGluStop
AUGCGUGUAUACGAUGCGAGUGA
MetArgValTyrAspAlaSerGA

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Genetic Variant
Human genome varies between individual with 3
million variants (200,000 variants are functional)
different phenotype e.g. hair, eye, skin, blood
group etc.
Variant with population frequency > 1% is
polymorphism
Variants of metabolic-related genes produce
different response to nutrient metabolism etc.

Genetic Polymorphism/Variation

Type

Single Nucleotide Polymorphism (SNP)

change of base in the DNA
may cause change to protein (functional SNP)
or may not (linked SNP)

Insertion Deletion Polymorphism

Addition/insertion of a base/bases in the DNA
sequence
deletion of a base/bases in the DNA
both of these shift the DNA so it changes how
the codons are read

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Short Tandem Repeat (STR) or Variable

Number of Tendem Repeat (VNTR)
2-5 nucleotide repeat (TA)n, (CAC)n,
(TTTA)n
Location : promoter, exon, intron
Nomenclature :
MTHFR C667T
IL-6 -176C>G
ACE insertion/deletion
CYP19 (TTTA)n
RET IVS1+2TA; IVS1-1GT

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Mutation

Polymorphism

Any DNA changes

Protein function < 10%

Any DNA changes

Protein function normal or
> 60%
Disease susceptibility
Individual mating normal,
polymorphism is inherited
normally
Frequency > 1%

Disease caused
Individual mating reduce,
mutation is inherited less
Frequency is rare

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