MUTATION

Protein Synthesis and Mutations

 Mutations
A mutation takes place when there is a
change in the sequence of nitrogenous
bases in the DNA.

It may be induced by factors called

mutagens, commonly in the form of toxic
chemicals, and harmful radiation that can
promote growth and development of
cancer cells.
Mutations
Mutations may happen in sex cells (germline
mutation) or body cells (somatic mutation).
Only mutations in sex cells are passed on to
offspring. On the other hand, mutations in body
cells are not passed on to the next generation.

There are two types of mutations that can occur in

sex cells: chromosomal mutation and gene
mutation.
Chromosomal
Mutation
 During cell division (mitosis or
meiosis), an error may occur
during the process, changing parts
of a chromosome or the entire set
of chromosome itself.

Two types of chromosomal

mutation are known: numerical
mutation and structural mutation.
 Chromosomal Mutation:
Numerical Mutation

Aneuploidy Polyploidy
When nondisjunction
Monosomy & Trisomy
involves an entire set of
chromosomes, it is called
polyploidy.
Chromosomal Mutation: Numerical Mutation

Aneuploidy Polyploidy
When nondisjunction involves an
Monosomy & Trisomy entire set of chromosomes, it is
called polyploidy.
 Chromosomal Mutation:
Structural Mutation
01 02
Translocation Inversion
Transfer of genetic material between two The broken ends reattach in a reverse
non-homologous chromosomes order

03 04
Deletion Duplication
When portions of chromosomes are
Consequent loss of one or more genes
present in multiple copies
1. Translocation
1. Translocation
1. Translocation
2. Inversion
2. Inversion

Hemophilia is usually
an inherited bleeding
disorder in which the
blood does not clot
properly.
3. Deletion
3. Deletion

Cri-du-chat (cat's cry) syndrome,

also known as 5p- (5p minus)
syndrome, is a chromosomal
condition that results when a piece
of chromosome 5 is missing .
4. Duplication
4. Duplication

Pallister Killian syndrome, where part

of the #12 chromosome is duplicated.
Gene Mutation
 Gene Mutation

Base Substitution/
Base Insertion or Deletion
Point Mutation
When one nucleotide is This is often more disastrous
substituted with another than a base substitution
Gene Mutation
Base Substitution/Point Mutation
Syndromes/
Disorders
 Cri du chat
“Cri du chat” is caused by the deletion of part of the short arm of chromosome 5. “Cri du chat” is
French, and the condition is so named because affected babies make high-pitched cries that sound
like a cat. Affected individuals have wide-set eyes, a small head and jaw, are moderately to severely
mentally retarded, and very short.
 Cri du chat
Cri du chat – French word “cry of the cat”
 Down’s Syndrome
Down’s syndrome is usually caused by an extra copy of chromosome 21(trisomy 21).
Characteristics include decreased muscle tone, stockier build, asymmetrical skull,
slanting eyes and mild to moderate mental retardation.
 Down’s Syndrome
Down syndrome is named for the English physician John Langdon Down, who
characterized the condition.
 Edwards Syndrome
Edwards syndrome, which is the second most common trisomy after Down’s syndrome, is a trisomy of
chromosome 18. Symptoms include mental and motor retardation and numerous congenital anomalies
causing serious health problems. About 99% die in infancy. However, those who live past their first
birthday, usually are quite healthy thereafter. They have a characteristic hand appearance with clenched
hands and overlapping fingers.
 Edwards Syndrome
John Hilton Edwards, et al., discovered Edwards syndrome (trisomy 18) in
1960 after researching a newborn with multiple congenital complications and
issues with cognitive development.
 Jacobsen Syndrome
Jacobsen syndrome is also called terminal 11q deletion disorder. This is a very
rare disorder. Those affected have normal intelligence or mild mental retardation,
with poor or excessive language skills. Most have a bleeding disorder called Paris-
Trousseau syndrome.
 Jacobsen Syndrome
The condition was first described by Jacobsen in 1973 in a family with multiple
members that inherited an unbalanced 11;21 translocation derived from a balanced
translocation carrier parent.
 Klinefelter’s Syndrome
Klinefelter’s syndrome (XXY). Men with this condition are usually sterile and
tend to have longer arms and legs and to be taller than their peers. They are
often shy and quiet and have a higher incidence of speech delay.
 Klinefelter’s Syndrome
It is named after American endocrinologist Harry Klinefelter, who identified
the condition in the 1940s. In 1956, the extra X chromosome was identified as
the cause.
 Turner’s Syndrome
Turner’s syndrome (X instead of XX or XY). Female sexual characteristics are
present but underdeveloped. They often have a short stature, low hairline,
abnormal eye features and bone development and a “caved-in” appearance to
the chest.
 Turner’s Syndrome
Turner’s syndrome is named for Henry Turner who, in 1938, was one of the
first doctors to report on the disorder in the medical literature. Turner syndrome
is one of the most common chromosomal disorders and likely the most
common genetic disorder of females.