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Understanding Protein Mutations and Effects

The document discusses mutations and their impact on protein structure and function, highlighting gene and chromosomal mutations. It provides examples of chromosomal mutations such as Cri du chat, Down's Syndrome, and Klinefelter's syndrome, along with the implications of sickle cell anemia. The text also touches on the relationship between sickle cell mutation and malaria resistance, prompting a discussion on the mutation's benefits and drawbacks.

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Ken Mabalot
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5 views16 pages

Understanding Protein Mutations and Effects

The document discusses mutations and their impact on protein structure and function, highlighting gene and chromosomal mutations. It provides examples of chromosomal mutations such as Cri du chat, Down's Syndrome, and Klinefelter's syndrome, along with the implications of sickle cell anemia. The text also touches on the relationship between sickle cell mutation and malaria resistance, prompting a discussion on the mutation's benefits and drawbacks.

Uploaded by

Ken Mabalot
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

MUTATIONS

How Do Mutations Cause


Changes in the Structure
and Function of Protein?
Replicate, Transcribe and Translate
1. TACCCGTATCGACCT (one
parent DNA strand)

2. TACGGGCTCGATCAT (one
parent DNA strand)
SHORT QUIZ
• TACAACTCGGATCCT (one
parent DNA strand)

• What is the role of DNA in


heredity?
Take a Look…

THE DOG BIT THE CAT

THE DOG BIT THE CAR


THE DOG BIT THE CAT

THE DOG BIT THE CAR

• What do you observe?


Two Types of Mutation
• Gene Mutation or Point Mutation

• Chromosomal Mutation
Some examples of chromosomal mutation

• “Cri du chat” – caused by


a deletion of a part of the
short arm of chromosome
5
• Affected babies have
wide-set eyes, a small
head and jaw, are
moderately to severely
mentally retarded, and
very short
Some examples of chromosomal
mutation
• Down’s Syndrome –
caused by an extra
copy of chromosome
21 (trisomy 21)
Some examples of chromosomal
mutation

• Edward’s Syndrome –
trisomy of chromosome
18
Some examples of chromosomal
mutation

Jacobsen syndrome
• terminal 11q deletion disorder
• Very rare
• Normal intelligence or mental retardation, with
poor or excessive language skills
• Most with bleeding disorder called Paris-
Trousseau syndrome
Klinefelter’s syndrome (XXY)
• Men are usually sterile and tend to be taller than
their peers
• They are often shy and quiet and have a higher
incidence of speech delay
Turner’s syndrome (X instead of XX or XY)

• Female sexual characteristics are present but


underdeveloped

• Often have a short stature, low hairline,


abnormal eye features and bone development
and a “caved-in” appearance to the chest
Sickle Cell Anemia: The Facts
Normal red blood cells can live for 120 days.

Sickle-shaped cells live only 10 to 20 days.

In the US, the disease most commonly affects


African-Americans (ratio: 1 out of 500 babies).

It is common among people from Africa, India,


the Caribbean, Middle East and Mediterranean.
The high prevalence of the defective gene in these
regions may be due to the fact that carriers of a
mutation in the beta-subunit of hemoglobin are
more resistant to malaria.
• Malaria is a disease caused by a parasite that is
transmitted to a person when they are bitten by
an infected mosquito.

• This is common in hot countries and causes


recurring chills and fever.

Source: [Link]
/whataregd/sicklecell/
So, is sickle cell mutation
good or bad? Why or why
not?

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