Gene Mutation

Mutation: hereditary change

Allele: any one of two or more genes that may occur alternatively at a given site (locus)
on a chromosome. Alleles may occur in pairs, or there may be multiple alleles affecting
the expression (phenotype) of a particular trait.

Gene mutation: An allele of a gene changes, becoming a different allele

Chromosome mutation: segments of chromosomes, whole chromosomes, sets of

chromosomes change.

Forward mutation: any change away from the wild-type allele

Reverse mutation (reversion): any change back to the wild-type allele

How DNA Changes Affect Phenotype.

Point mutations: alterations of single base pairs of DNA, or to a small number of adjacent
base pairs.

Two main types of point mutations: base substitutions, and base additions/deletions.

Point mutation is a change in a single base pair of DNA by substitution, deletion, or

insertion of a single nitrogenous base. An example of point mutation is sickle cell
anaemia. It involves mutation in a single base pair in the beta-globin chain of hemoglobin
pigment of the blood.
Consequences of different categories of point mutations in coding sequence:
1. Silent substitution: the mutation changes one codon for an amino acid into another
codon for the same amino acid.
2. Missense mutation: the codon for one amino acid is replaced by a codon for another
amino acid e.g., sickle cell anemia

Missense mutations lead to:

Synonymous substitution: The original amino acid is replaced by a chemically
similar amino acid
Non-synonymous substitution: Replacement by a chemically different amino acid
are more likely to lead to severe changes in protein structure and function.
Null mutation is defined as the gene that usually encodes a specific enzyme leading
to the production of a nonfunctional enzyme or no enzyme at all. If the function is
entirely lost, the mutation is called a null mutation.
A nonsense mutation, or its synonym, a stop mutation, is a change in DNA that causes a
protein to terminate or end its translation earlier than expected. This is a common form of
mutation in humans and in other animals that causes a shortened or nonfunctional protein
to be expressed. Nonsense mutations can cause rare genetic diseases such as Duchenne
muscular dystrophy, cystic fibrosis, and hemophilia

A frameshift mutation This type of mutation occurs when the addition or loss of DNA
bases changes a gene's reading frame. A reading frame consists of groups of 3 bases that
each code for one amino acid. A frameshift mutation shifts the grouping of these bases
and changes the code for amino acids. The resulting protein is usually nonfunctional.
Insertions, deletions, and duplications can all be frameshift mutations. Frameshift
mutation has 2 types insertion and deletion.
Somatic versus germinal mutation.

What is the difference between somatic and germline mutations?

Genetic mutation is of two types. Germline mutations are changes to your DNA that you
inherit from the egg and sperm cells during conception. Somatic mutations are changes to
your DNA that happen after conception to cells other than the egg and sperm. Mutations
can lead to genetic conditions that affect your health.

Some common germline mutation conditions include

 Sickle cell disease.
 Cystic fibrosis (mutations in a genes called the cystic fibrosis transmembrane
conductance regulator (CFTR) gene)
 Tay-Sachs disease (It is caused by a mutation in the enzyme hexosaminidase A,
which allows the harmful buildup of lipids in cells) These fatty substances, called
gangliosides, build up to toxic levels in the brain and spinal cord and affect the
function of the nerve cells.
 Huntington’s disease (an inherited disorder that causes nerve cells (neurons) in parts
of the brain to gradually break down and die. The disease attacks areas of the brain
that help to control voluntary (intentional) movement, as well as other areas)

Common somatic mutation conditions include:

 Skin cancer.

 Lung cancer.

 McCune-Albright syndrome (a disease that affects the bones, the skin and the
endocrine system. Children with McCune-Albright condition have weakened
bones that break easily. The disorder is present at birth, but symptoms may not
appear until later in childhood)
 McCune-Albright syndrome

 Sturge-Weber syndrome (neurological disorder present at birth and characterized

by a port-wine stain birthmark on the forehead and upper eyelid on one side of the

face)
Mutant types.

Morphological mutations: affect the visible properties of an organism.

Lethal mutations: affect viability of the organism.

Conditional mutations: cause a mutant phenotype only under restrictive conditions, but
cause a wild-type phenotype under permissive conditions (e.g., temperature sensitive)

Biochemical mutations: are identified by the loss or change of some biochemical

function of the cells, typically resulting in an inability to grow and proliferate.
(e.g., Microorganisms are mostly prototrophic and can exist on a minimal medium
containing only inorganic salts and an energy source. Biochemical mutants often are
auxotrophic, and must be supplied additional nutrients if they are to grow)