Mutation and genetics disease

1. Mutation & genetic
diseases
| Medreseja e Tiranes |
Class 11 E1
Worked by Amena Vyshka

2. What are mutations ?
A mutation is a change in a DNA sequence. Mutations can
result from DNA copying mistakes made during cell division,
exposure to ionizing radiation, exposure to chemicals called
mutagens, or infection by viruses. Germ line mutations
occur in the eggs and sperm and can be passed on to
offspring, while somatic mutations occur in body cells and
are not passed on.

3. What are mutations ?

4. Types of mutations
Mutations are of several types. Changes within
genes are called point mutations. The simplest
kinds are changes to single base pairs, called base-
pair substitutions. Many of these substitute an
incorrect amino acid in the corresponding position
in the encoded protein, and of these a large
proportion result in altered protein function.

5. Types of mutations
• Germline mutations occur in gametes. Somatic
mutations occur in other body cells.
• Chromosomal alterations are mutations that
change chromosome structure.
• Point mutations change a single nucleotide.
• Frameshift mutations are additions or deletions of
nucleotides that cause a shift in the reading
frame.

6. Ilustration of mutations

7. Mutations on animal (Example)
Examples of mutations in animals are those born with extra
body parts, e.g. two-headed snake, four-legged ducks, and
a cyclops kitten. Often, these kinds of mutations lead to the
death of the animal soon or a few days after its birth.

8. Genetic diseases
A genetic disorder is a disease that is caused by a
change, or mutation, in an individual's DNA
sequence. A genetic disorder is an illness caused by
changes in a person's DNA.

9. What causes genetic disease?
Genetic disorders can be caused by a mutation
in one gene (monogenic disorder), by mutations
in multiple genes (multifactorial inheritance
disorder), by a combination of gene mutations
and environmental factors, or by damage to
chromosomes (changes in the number or
structure of entire chromosomes, the structures
that carry genes).

10. 5 Common Genetic Disorders
• Down Syndrome
• Thalassemia
• Cystic Fibrosis
• Tay-Sachs disease
• Sickle Cell Anemia

11. Remember…
Safety First!
(Enter your own creative tag line above)