Mutations and environmental mutagens can cause genetic disorders by altering DNA sequences. Mutations are changes in DNA that may have no effect, cause death, or affect phenotype depending on the gene. Certain mutagens like chemicals, radiation, smoking, and UV rays can also induce mutations. There are different types of mutations - silent mutations do not affect proteins, missense mutations substitute amino acids which may significantly or minimally affect structure and function, and nonsense mutations prematurely terminate protein production. Sense mutations convert stop codons into amino acids to slightly lengthen proteins.

1. CAUSES OF GENETIC
DISORDER
Presentation by AIMAN PERVEZ
Subject : fundamental of Genetics
Deptt: Biochemistry
Semester : 3rd
Roll No:CH03(B)U/21
Date: 17 -03-2023

2. Outlines
• Genetic disorder
• Causes of genetic disorders
• Mutations
• Mutagens
• Types of mutation
• Examples of mutation

3. Genetic disoder

4. Causes of genetic disorder

5. MUTATIONS
Any change in the DNA sequence of an organism
is a mutation.
Mutations are the source of the altered versions
of genes that provide the raw material for
evolution.
Most mutations have no effect on the organism, the
mutations that do affect the phenotype,
the most common effect of mutations is lethality,
because most genes are necessary for life.

6. Causes
Most of our DNA and genes instruct the body to
make new protiens.These protiens starts complex
cell interaction that help you stay healthy.
Certain reason like mutation can effect this
process. It affects the gene-protien making
instruction.
There could be missing protien or the one you have
but do not work properly.
Some environmental factors known as mutagen can
also cause genitic disorder or mutation.

7. Mutagens includes:
• Chemical exposure
• Radiation exposure
• Smoking
• UV exposer from the sun

8. TYPES OF MUTATION
Mutations can be classified according to their effects
on the protein (or mRNA) produced by the gene that
is mutated.
1. Silent mutation
2. Missense mutation
3. Non sense mutation
4. Sense mutation

9. Silent mutation
Since the genetic code is degenerate, several codons
produce the same amino acid.
These mutations affect the DNA but not the protein.
Therefore, they have no effect on the organism’s
phenotype.

10. Missense mutation
Missense mutations substitute one amino acid for
another. Some missense mutations have very large
effects, while others have minimal or no effect. It
depends on where the mutation occurs in the
protein’s structure, and how big a change in the type
of amino acid it is .

11. Non sense mutation

12. Sense mutation
Sense mutations are the opposite of nonsense
mutations. Here, a stop codon is converted into an
amino acid codon. Since DNA outside of protein-
coding regions contains an average of 3 stop codons
per 64, the translation process usually stops after
producing a slightly longer
protein.

13. Sense mutation

18. Presentation by:
AIMAN PERVEZ KHAN
THE END