Scribd
Upload
2 views

Mutations

The document explains the structure and function of DNA, including its replication process and the concept of mutations. It details the causes of mutations, their consequences, and types such as point mutations and chromosome mutations. Examples of specific mutations like Cystic Fibrosis, Sickle Cell Anemia, and Lactose Intolerance are also provided.

Uploaded by

zn66b4pjct
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
2 views

Mutations

The document explains the structure and function of DNA, including its replication process and the concept of mutations. It details the causes of mutations, their consequences, and types such as point mutations and chromosome mutations. Examples of specific mutations like Cystic Fibrosis, Sickle Cell Anemia, and Lactose Intolerance are also provided.

Uploaded by

zn66b4pjct
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
You are on page 1/ 19

6.

2 Mutations
What is DNA?

⚫ Deoxyribonucleic acid (DNA)


⚫ The “ladder model” of DNA shows the structure of
the molecule consisting of sugar and phosphate
molecules forming the back bone (sides), and four
nitrogen base pairs:
⚪ Adenine, Guanine, Cytosine, Thymine
⚪ A, G, C, T
⚫ These form the “steps” of the ladder
⚫ Only Cytosine can attach with Guanine, and only
Adenine can attach to Thymine
EXAMPLE

⚫ What is the complementary strand to the following


DNA strand?

ATTCCGATATCTGA
Interphase - DNA replication

⚫ Before cells divide it must first make a copy of its


DNA
⚫ During DNA replication two copies of DNA are made
from one
⚫ STEPS:
⚪ The enzymes break the bonds between the bases and unzips
the DNA
⚪ As the DNA unzips another enzyme moves along each strand
attaching free nucleotides to each base
⚪ Sugar-phosphate backbone is formed with the adjacent
nucleotides
⚪ This process continues until the entire strand is unzipped and
new molecules of DNA are formed
EXAMPLE

Draw a diagram showing how the following DNA


double helix would replicate:

CGACTTG
GCTGAAC
MUTATIONS

⚫ What is a mutation?
⚫ A change in the DNA sequence
What causes mutations?

⚫ Spontaneous
Mutations: happen in
nature by accident,
where there is incorrect
copying of DNA during
mitosis/meiosis

⚫ Induced mutations:
happen as a result of
exposure to a physical or
chemical agent (ex. UV
radiation)
Consequences of mutations

⚫ VARIES!

⚫ Cell could:
⚪ Die
⚪ Reproduce
⚪ Be negatively affected

⚪ Be positively affected

⚪ Not be affected at all


TYPES OF MUTATIONS

⚫ Point mutations
⚪ Substitution
⚪ Deletion
⚪ Insertion

⚫ Chromosome mutations
⚪ Non-disjunction (already discussed)
POINT MUTATIONS
Point mutations

⚫ Base-pair substitution
⚪ One nitrogenous base is accidentally replaced with a different
base
⚫ Deletion
⚪ One or more nitrogenous bases are deleted during the copying
process
⚫ Insertion
⚪ One or more nitrogenous bases are inserted during the copying
process
Result:

⚫ Ribosomes use this DNA sequence to make proteins


⚫ They read this sequence in groups of 3
⚫ If a change is made in the sequence, the ribosomes
will assemble a different protein
Inheriting Mutations

⚫ If the mutation occurs in an autosomal cell 🡪


NOT inherited

⚫ If a mutation occurs in a gamete 🡪 inherited


Examples of Mutations

⚫ Cystic Fibrosis
⚫ Various mutations of
CFTR gene (on
chromosome 7) cause
cystic fibrosis

⚫ Can result in difficulty


breathing, lung
infections etc.
Sickle Cell Anemia

⚫ Caused by a single point


substitution (single A base
is substituted by a T)
⚫ RBC are not able to move
through blood vessels
properly
⚫ Silver lining🡪 helps
destroy malaria in the
individual
Lactose Intolerance

⚫ Mutation on gene on
chromosome 2

⚫ If gene is mutated,
unable to digest
lactose and instead it
is digested by
intestinal bacteria 🡪
leads to stomach
problems
HOMEWORK

⚫ Read 6.2 (p. 234 – 236 only)

⚫ Q. #2, 3

You might also like