Mutations are changes to a DNA

sequence. Just like the information in

DNA as a group of sentences,
mutations are mistakes in spelling of
the words that form those sentences.

Mutagens are agents that cause

alteration in the DNA and can lead to
permanent mutations in the DNA
sequence depending on the ability of
an organism to repair the damage.
Examples of mutagens are radioactive
substances, x-rays, ultraviolet
radiation, and certain chemicals or
drugs.

There are two types of mutations that can occur in gamete cells:
1. Gene mutation is a permanent change in the DNA sequence that
makes up a gene.
2. Chromosomal mutation occurs at the chromosome level resulting
in gene deletion, duplication or rearrangement that may occur
 during the cell cycle and meiosis. It may be caused by parts of
chromosomes breaking off or rejoining incorrectly.

Most mutations are harmful. Some mutations in a body cell are known
to cause cancer, while mutations in sex cells can cause birth defects. A
severe mutation may lead to cell death and may have no effect on the
body. Sometimes mutations may be useful for the species. For example,
a mutation in blood proteins prevents viruses or parasites to thrive in
host organisms.

What is a Gene?
Genes are segments of DNA located
on chromosomes.

There are 2 types of gene

mutations: Point Mutation and
Frame-Shift Mutation.

1. Point Mutation- It is the type of mutation in DNA or RNA wherein

one single nucleotide base is deleted, added, or altered. This can
lead to substitution mutation.
2. Frame-shift mutation-happens when the normal sequence of
codons is disorganized by the insertion or deletion of one or more
nitrogenous bases, given that the number of nitrogenous bases
added or deleted is not a multiple of three.
There are three types of substitution mutation. These are nonsense,
missense and
silent
mutation.

1.
Nonsense

mutation results in the formation of a stop codon due to the

substitution of one nitrogenous base.
 2. When one nitrogenous base of the DNA is replaced and the
result is an altered codon but does not form a stop codon, it is
classified as missense mutation.
This will create a different amino acid in protein synthesis.
Example: DNA:
CAT to mRNA :
GUA to tRNA CAU
(Valine)
CAT is changed
into CCT to
mRNA: GGA to
tRNA: CCU
(Glycine)

Missense mutation
can be classified into
conservative and non-
conservative.
Conservative
mutation: When the
new amino acid
 formed has the same properties of the one that was supposed to be
produced.
Non-conservative: When the new amino acid formed has different
properties of the one that was supposed to be produced.

3. Silent mutation happens when a nitrogenous base is altered

but the same amino acid is produced.

The following are kinds of

chromosomal mutations:

1. Deletion- happens
when a base is deleted
from the nitrogen base
sequence.
2. Duplication – occurs
when a part of a
chromosome is copied
(duplicated) too many
times. This type of
chromosomal change
 results in extra copies of genetic material from the duplicated
segment.
3. Inversion - when a segment of a chromosome is reversed end to
end.
4. Insertion- the addition of one or more nucleotide base pairs into a
DNA sequence.
5. Translocation- segments of two chromosomes are exchanged.

Genetic Disorders
1. Recessive Disorders
Recessive disorders happen
when a child receives two
defective genes from each
parent. A person who receives
one defective recessive gene is
called a carrier. The carrier
does not express the disorder
because it is not detectable by
the dominant normal gene.
Therefore, it can pass the
defective to their children.
a. Sickle cell anemia- is a genetic blood disorder. A person who
inherits two defective genes will have abnormally shaped red
blood cells and may die at an early stage.
b. Tay-Sachs disease- is a characterized by the lack of an
important chemical in the brain. Infants who have this kind of
disease usually die within their first five years.
c. Phenylketonuria or PKU- is a rare genetic disorder that can
cause serious mental retardation in infants. An infant who has
this kind of disorder cannot breakdown phenylalanine
(chemical commonly found
in food) that builds up in
the body, in which the brain
is affected.
d. Cystic fibrosis- is a
disease in which some
glands produce too much
that it clogs and damages
the lungs. This disease is
fatal among children
because it causes difficulty in breathing.
 e. Albinism-
(specifically Type I
oculocutaneous
albinism) is an
autosomal recessive
disorder in which the
formation of melanin is
reduced or absent in
skin, hair, and eyes due
to the lack of activity of tyrosinase.
2. Sex-linked Disorders
Sex-linked disorder is more common in men because they have
only one X chromosome, so all defective genes on the
chromosome will be expressed. Since women carry two X
chromosomes, a recessive defective gene on one X chromosome
can be covered by a normal gene on the other X chromosome. A
woman who had this kind of disease may pass it on to her
children. The most common sex-linked disorder is color
blindness and hemophilia.
 3. Human Genetic Syndrome

There
are
some

genetic disorders that may

have a few or too many
chromosomes. A person who
survived during chromosomal
mutations is categorized by a distinctive set of mental or physical
abnormalities.
a. Cri du chat syndrome- is caused by the deletion of part of
short arm of chromosome 5. Babies who have this disease
have a wide set of eyes and small had and jaw.
b. William syndrome- is the result from the loss of segment in
chromosome 7. They have large ears and facial features that
make them look live elves.
c. Down syndrome-
(Trisomy 21) is
known as Mongolism.
A child receives an
extra chromosome
(chromosome 21) and
has a distinctive
physical appearance.
It is the most
common cause of mental
retardation. It can be a mild or severe mental retardation.
d. Edward syndrome- (trisomy 18) happens when there is an
extra number 18 chromosome. It shows mental retardation
and physical abnormalities to the child and can live beyond
one year.
e. Patau’s syndrome- (trisomy 13) is caused by extra copy of
number 13 chromosome. Based on the study, about 90% of
 babies with this syndrome do not survive in infancy. Severe
mental retardation occurred to those survived.
f. Klinefelter’s syndrome-
(XXY) is another genetic
syndrome has two or more
X-chromosomes in
addition to their Y-
chromosomes. They lack
facial hair and testes,
including prostate gland
are underdeveloped.
g. Turner’s syndrome- has
45% chromosomes. About 96-98% with this condition do not
survive at birth. Its genetic disorder that affects women. Those
who survived with this condition usually have no
menstruation, has narrow hips, breasts are not developed,
and with broad shoulders and neck.
Causes of Mutations:
1. Smoking can raise of genetic mutation.
2. Effect of an old age on offspring.
3. Chemotherapy
4. External influences
Human karyotyping- A
karyotype is an image of the
full set of chromosomes of
an individual that displays
the normal number, size,
and shape. Karyotypes may
reveal the gender of a fetus
or test for certain defects
through examination of cells
from uterine fluid – a
procedure called amniocentesis – or through sampling of placental
membranes.
Genetic engineering- (also
called genetic modification) is
a process that uses
laboratory-based
technologies to alter the DNA
makeup of an organism. This
may involve changing a
single base pair (A-T or C-G),
deleting a region of DNA, or
adding a new segment of DNA.