MUTATION AND GENETIC DISODERS

MUTATION

Mutation : change that occurs in our DNA sequence

DNA undergo changes in the sequence of bases, Adenine, Guanine, Cytosine, Thymine
Changes in the protein that are made
Mutations contribute to genetic variation within species
Example : sickle cell anaemia

FACTORS CAUSING MUTATION

Exogenous factors: environmental factors such as sunlight, radiation, and smoking can cause
mutations.
Endogenous factors: errors during DNA replication can lead to genetic changes

TYPES OF MUTATION

Small-scale mutations

Point mutation a change in one base in the DNA sequence.

Substitution when one or more bases in the sequence is replaced by the same number
of bases (for example, a cytosine substituted for an adenine).

Inversion when a segment of a chromosome is reversed end to end.

 Insertion when a base is added to the sequence.

Deletion when a base is deleted from the sequence.

Large-scale mutations

Copy Number Variation (CNV) is a type of mutation where large chunks of DNA are inserted,
repeated or lost.

Duplication of genes. When there is an increase in the number of copies of a gene.

Deletions of large regions of the chromosome.

Loss of one copy of a gene in an organism that previously had two copies.

Loss of both copies of the same gene.

Movement of sections of DNA from one location to another.

Addition of an extra copy of a chromosome. For example, an extra copy/partial copy of

chromosome 21 results in Downs Syndrome.
 GENETIC DISODERS

disease that is caused by a change, or mutation, in an individuals DNA sequence

These mutations can be due to an error in DNA replication or due to environmental
factors
when a section of our DNA is changed in some way, the protein it codes for is also
affected and may no longer be able to carry out its normal function.
Depending on where these mutations occur, they can have little or no effect, or may
profoundly alter the biology of cells in our body, resulting in a genetic disorder

Three Main Categories of Genetic Disorders

1. Single gene disorders: disorders caused by defects in one particular gene, often with simple
and predictable inheritance patterns.
Dominant diseases: occur when an individual has one altered copy of the relevant
gene and one healthy copy. For example, Huntingtons disease.
Recessive diseases: only occur when an individual has two altered versions of the
relevant gene. For example, cystic fibrosis.
X-linked disorders: that result from the presence of a mutated gene on the X
chromosome. For example, haemophilia A

2. Chromosome disorders: disorders resulting from changes in the number or structure of the
chromosomes.
For example, Downs Syndrome, Turner Syndrome

3. Multifactorial disorders : disorders caused by changes in multiple genes.

For example, cancer