Mutation

 Sudden change of a gene or

chromosome from one form to
another.
 It produces an alteration in the
character under its control
 Dobzhansky stated that,
mutation is a mistake or misprint
in cell division
 The term mutation was
introduced by De Vries.
 Kinds of mutation
 The DNA sequence of a gene can be altered in a number of ways. Gene
mutations have varying effects on health, depending on where they occur
and whether they alter the function of essential proteins. The kinds of
mutations include:
1. Missense
2. Nonsense
3. Insertion
4. Deletion
5. Duplication
6. Frame shift
7. Repeat expansion
Missense mutation

 This type of mutation is

a change in one DNA
base pair that results in the
substitution of one amino
acid for another in the
protein made by a gene.
Nonsense mutation

 A nonsense mutation is also a

change in one DNA base
pair. Instead of substituting
one amino acid for another,
however, the altered DNA
sequence prematurely signals
the cell to stop building a
protein. This type of mutation
results in a shortened protein
that may function improperly
or not at all.
Insertion

 An insertion changes the

number of DNA bases in a
gene by adding a piece of
DNA. As a result, the protein
made by the gene may not
function properly.
Deletion

 A deletion changes the number of

DNA bases by removing a piece of
DNA. Small deletions may remove
one or a few base pairs within a
gene, while larger deletions can
remove an entire gene or several
neighbouring genes. The deleted
DNA may alter the function of the
resulting protein(s).
Duplication

 A duplication consists of
a piece of DNA that is
abnormally copied one
or more times. This type
of mutation may alter
the function of the
resulting protein.
Frame shift 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
frame shift mutation shifts the
grouping of these bases and
changes the code for amino
acids. The resulting protein is
usually non-functional. Insertions,
deletions, and duplications can
all be frame shift mutations.
Repeat expansion

 Nucleotide repeats are short DNA

sequences that are repeated a
number of times in a row. For
example, a trinucleotide repeat is
made up of 3-base-pair sequences,
and a tetranucleotide repeat is
made up of 4-base-pair sequences.
A repeat expansion is a mutation
that increases the number of times
that the short DNA sequence is
repeated. This type of mutation can
cause the resulting protein to
function improperly.
Classification of mutation
 Somatic
 Gametic
 Point
 Spontaneous
 Induced
 Dominant
 Recessive
 Silent
Somatic

 A change in the genetic structure that is not

inherited from a parent, and also not passed to
offspring, is called a somatic mutation.
 Somatic mutations are not inherited because
they do not affect the germline.
 These types of mutations are usually prompted
by environmental causes, such as ultraviolet
radiation or any exposure to certain harmful
chemicals, and can cause diseases including
cancer.
Gametic
 When a mutation occurs in a germ cell, it is
called germline or gametic mutation.
 Sincethese mutations occur in the cells that
create gametes, the mutations can be passed
on to offspring.
 Themutated DNA will exist in all of the cells of
the offspring because the mutation existed in
the cells that developed into the entire
organism and will be passed on to any of its
offspring.
Point

 A point mutation or substitution is a genetic mutation

where a single nucleotide base is changed, inserted or
deleted from a sequence of DNA or RNA.
 Point mutations usually take place during DNA
replication.
 A single point mutation can change the whole DNA
sequence. Changing one purine or pyrimidine may
change the amino acid that the nucleotides code for.
Spontaneous

 Mutations that results from natural changes in DNA.

 Tautomerism — A base is changed by the repositioning of a
hydrogen atom, altering the hydrogen bonding pattern of
that base, resulting in incorrect base pairing during
replication.
 Deamination
 Depurination
Induced

 Induced mutations are alterations in the gene

after it has come in contact with mutagens and
environmental causes. Induced mutations on
the molecular level can be caused by:
1. Chemicals
2. Ultraviolet radiation
Recessive and Dominant

A recessive mutation is one in which both

alleles must be mutant in order for the mutant
phenotype to be observed; that is, the
individual must be homozygous for the mutant
allele to show the mutant phenotype.
 Incontrast, the phenotypic consequences of a
dominant mutation are observed in a
heterozygous individual carrying one mutant
and one normal allele
Silent

 Silent mutations are mutations in DNA that do not have

an observable effect on the organism's phenotype.
They are a specific type of neutral mutation.
 Mutations that cause the altered codon to produce
an amino acid with similar functionality (e.g. a
mutation producing leucine instead of isoleucine) are
often classified as silent; if the properties of the amino
acid are conserved, this mutation does not usually
significantly affect protein function.
 Gene mutation disorders
 A genetic disorder is a genetic problem caused by one
or more abnormalities in the genome. Most genetic
disorders are quite rare and affect one person in every
several thousands or millions.
 Genetic disorders may be hereditary, meaning that they
are passed down from the parents' genes. In other
genetic disorders, defects may be caused by new
mutations or changes to the DNA. In such cases, the
defect will only be passed down if it occurs in the
germline.
 Single gene disorders
 Multiple gene disorders
Single gene disorders

 Autosomal dominant -
Huntington’s disease,
Neurofibromatosis
 Autosomal recessive - Albinism,
Sickle cell disease
 X-linked dominant - Rett syndrome
 X-linked recessive - Haemophilia,
DMD
Rett syn.
Scoliosis
ALBINISM
PHENYLKETONURIA
ALKAPTONURIA
 Galactosemia It results
hepatomegaly (an
 It is a rare genetic metabolic disorder that affects an
individual's ability to metabolize the enlarged liver),
sugar galactose properly. cirrhosis,
 It follows an autosomal recessive mode of inheritance Renal failure,
that confers a deficiency in an enzyme responsible cataracts,
for adequate galactose degradation. vomiting,
 Lactose in food (such as dairy products) is broken seizure,
down by the enzyme lactase hypoglycemia,
into glucose and galactose. brain damage, and
 In individuals with galactosemia, the enzyme needed ovarian failure.
for further metabolism of galactose (Galactokinase) is Without treatment,
severely diminished or missing entirely, leading to
mortality in infants with
toxic levels of galactose in various tissues.
galactosemia is about
75%.
 Brachydactyly
 Brachydactyly is a shortening of the fingers and toes due to
unusually short bones.
 This condition can also be a symptom of other genetic
disorders.
 Symptoms of brachydactyly Causes:
 The signs of brachydactyly are usually present at birth, but
Brachydactyly is an inherited
it’s possible that shortened limbs become more obvious
condition, which makes genetics
with growth and development. The main symptom of the main cause. If you have
brachydactyly is fingers, toes, or both that are shorter than shortened fingers or toes, other
normal. Unless you have another condition associated with members of your family most likely
brachydactyly, you should not feel any pain or have any also have the condition. It is an
other symptoms. autosomal dominant condition,
which means you only need one
 The shortened fingers and toes of brachydactyly may parent with the gene to inherit
cause you to have difficulty with grip. If the brachydactyly the condition. It’s thought that
is severe in the feet, you may have trouble walking. These two different mutations in a
symptoms are rare, however, when there is no other certain gene contribute to
condition present. brachydactyly.
AUTOSOMAL ANOMALIES
DOWN’S SYNDROME
 Edwards syndrome
 Edwards syndrome, also known as trisomy 18, is a genetic
disorder caused by a third copy of all or part
of chromosome 18.
 Edwards syndrome occurs in around one in 5,000 live
births.
 It is the second-most frequent condition due to a third
chromosome at birth, after Down syndrome.
 Many parts of the body are affected.
 Babies are often born small and have heart defects.
 Other features include a small head, small jaw, clenched
fists with overlapping fingers, and severe intellectual
disability.
 Ultrasound can increase suspicion for the condition, which
can be confirmed by amniocentesis.
 Cri du chat syndrome
 Cri du chat syndrome, also known
as chromosome 5p deletion
syndrome, 5p−
syndrome (pronounced "five P minus")
or Lejeune's syndrome, is a
rare genetic disorder due
to chromosome deletion
on chromosome 5.
 Its name is a French term ("cat-cry" or
"call of the cat") referring to the
characteristic cat-like cry of affected
children.
Symptoms (Cri du chat syndrome)
 The syndrome gets its name from the characteristic cry of affected infants, which is
similar to that of a meowing kitten, due to problems with the larynx and nervous
system. About one third of children lose the cry by age of 2 years. Other symptoms of
cri du chat syndrome may include:
 feeding problems because of difficulty in swallowing and sucking;
 low birth weight and poor growth;
 severe cognitive, speech and motor disabilities;
 behavioral problems such as hyperactivity, aggression, outbursts and repetitive
movements;
 unusual facial features, which may change over time;
 excessive drooling (flow of saliva outside the mouth)
 small head (microcephaly) and jaw (micrognathism);
 widely-spaced eyes (hypertelorism).
SEX CHROMOSOMAL
ANOMALIES
TURNER’S SYNDROME
KINEFELTER’S SYNDROME