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Understanding Gene Mutations and Their Effects

The document discusses different types of mutations including gene and chromosomal mutations. It provides details on causes of mutations, types of gene mutations such as substitution, deletion and insertion. Examples of genetic diseases caused by mutations are also given.

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36 views18 pages

Understanding Gene Mutations and Their Effects

The document discusses different types of mutations including gene and chromosomal mutations. It provides details on causes of mutations, types of gene mutations such as substitution, deletion and insertion. Examples of genetic diseases caused by mutations are also given.

Uploaded by

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

Mutations

Mutation

• Any change in the DNA base sequence


Types mutations
1. Gene Mutations
2. Chromosomal Mutations
Gene Mutation
• A change in the base sequence of one or more gene
Causes of Mutation
•Errors in DNA replication
•Chemicals
• UV/X-ray Radiation
Types of Gene Mutation
I. Substitution

[Link]

[Link]
Other types of Gene Mutations

Point mutation
A change in ONE nitrogenous base, the overall number of bases stays the same
(Substitution)

Frame shift mutation


A change in the number of overall nitrogenous bases in the genetic code
(Insertion or Deletion)
Type of Mutation
• Substitution – One nitrogenous base is substituted
for another.

• Deletion – One or more nitrogenous bases are


removed

• Insertion – Extra nitrogenous bases are added to the


genetic code.
What are some characteristics of gene
mutations?
• They can be dominant or recessive
• They can occur on autosomal chromosomes
(pairs 1-22) or sex chromosomes (pair 23)
• People that are heterozygous for a recessive
genetic disorder are called carriers
• Carriers have one normal allele and one
diseased allele; They do not show symptoms
for the disease but may pass the allele to future
offspring
Genetic Diseases caused by gene
mutations:

Cystic Fibrosis
Faulty gene produces a
defective protein that does not allow for the proper
removal of mucous lining the cells of the lung and GI
tract.
Gene Mutations:
Tay-Sachs Disease

Faulty gene produces a defective enzyme


which cannot help remove fat from nerve cells.
Sickle-Cell Anemia:

One base is substituted for another and this causes


the production of a distorted hemoglobin molecule
(protein) which cannot function properly.
What do these three gene mutations have
in common?

They all affect the shape of proteins!! If we change


the shape of proteins (enzymes) they will not
function properly and this will affect our phenotype.
How do we trace/identify gene mutations in
a population or family?
• Pedigree Charts: - A diagram that shows the
presence or absence of a particular trait
through each generation.

• Genetic Testing: Ability to diagnose


vulnerabilities to various genetic disorders
Recessive Gene Pedigree Chart

Cc Cc
cc
A – Dominant Allele; a - Recessive

Aa Aa aa Aa

? aa aa Aa Aa aa

aa ?
H – Dominant Allele; h - Recessive

Hh hh

hh Hh hh Hh hh hh

hh hh hh hh hh Hh

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