GENETIC MUTATIONS

& DISORDERS
 E.Q. How are genetic mutations
advantageous and disadvantageous?

Changes in the chromosome of organisms that are

inheritable and are permanent are called
MUTATIONS or CHROMOSOMAL
ABERRATIONS
E.g.
* Albinism – the absence of pigments in the cell
• Sickle cell anemia – inability of red blood cells to efficiently
transport
oxygen
• Trisomy 21 – presence of the extra chromosome 21
• Hemophilia – inability of the blood to clot
• Huntington’s disease – deterioration of the brain tissue
• Cystic fibrosis – mucus clogging of organs such as lungs,
Based on Chromosome Number
EUPLOIDY – whole genome
ANEUPLOIDY – a change in number of
chromosomes; often cause by a phenomenon called NON-
DISJUNCTION or the inability of the homologous sex
chromosomes to segregate during meiosis

KLINEFELTER’S SYNDROME – (2n = 47; 44

autosomes + XXY)
TURNER’S SYNDROME – (2n = 45; 44
autosomes + X)
METAFEMALE – (2n = 47; 44 autosomes + XXX)
DOWN SYNDROME or TRISOMY 21 – (2n =
47)
BASED ON CHROMOSOME STRUCTURE
changes involving chromosome structure maybe in the
form of

deletion - loss of segment

duplication - a chromosome pair in excess of the normal

amount

inversion - rotation of a chromosome segment

translocation - transfer of a chromosome part to a

nonhomologous chromosome
Based on Nucleotide Sequence
Changes involving DNA sequence could be
MICROLESION or POINT MUTATION –
involving the deletion or insertion of only one
nucleotide pair

FRAMESHIFT MUTATION – deletion or

insertion of a number of nucleotides in the DNA
sequence

TRANSVERSE MUTATION – a change of a

purine to a pyrimidine or vice versa
INVERSION – happens when there is a change in the
sequence of genes. During meiosis, a chromosome breaks off
and joins again later. The broken part loses its way and results
in inserting at a different order. At synapsis, the two
choromosomes interact with one another. But because another
gene has taken the place, it results in miscommunication. They
do not understand each other so the development of gametes
and gene expression are affected.
DUPLICATION – occurs when there is unequal
crossing-over resulting in the repetition of a particular
segment. It increases genetic variability
BASE-PAIR INSERTION – nucleotide base pairs are
inserted or deleted from the original gene sequence. This is dangerous
because it alters the template from
which amino acids are read

e.g. the original transcribed DNA sequence is CGA CCA ACG

GCG, inserting two base pairs GA between the second and third
groupings, the reading frame will be shifted

Original grouping AMINO ACID PRODUCED

CGA CCA ACG GCG Arginine – Proline – Threonine – Alanine

Inserted base pairs (GA)

CGA CCA GASS CGG CG Arginine – Proline – Glutamic Acid - Arginine
CAUSES OF GENE MUTATION

1. ENVIRONMENTAL FACTORS
> chemicals, radiation, and ultraviolet light from the sun
* this can alter DNA by changing its nucleotide bases and shape
thus resulting in error in replication and transcription

2. NON IONIZING RADIATION

this bring electrons in high energy level but not enough to
separate them from the atom
e.g. UV which can be absorbed by the DNA - can cause two
adjacent thymine bases to bond covalently to each other causing the
DNA to bend – this will be copied incorrectly during replication that
may cause CANCER

3. NATURAL/SYNTHETIC CHEMICALS – chemicals as in

cigarette smoke transfer small hydrogen groups to the bases in DNA -
the altered base may “mispair” during replication or stop replication
entirely causing increased chances of mutation
DELETION – happens when a piece of chromosome is lost; during the formation of
gametes, the chromosome breaks and rejoins afterwards, sometimes it does not
attach back to the strand resulting in its loss
e.g. Cri-du-chat Syndrome (cry of the cat) due to the deletion of
chromosome #5. their larynxes are deformed so they cry like a cat; they are mentally
retarded; have weak heart, eyes, brain, kidneys, and bones
TRANSLOCATION – occurs when there is a movement of a segment of one
chromosome to another non-homologous chromosome
NONDISJUNCTION – results when the chromosome pairs do not
separate during meiosis. If it happens during the first meiotic division, one
set of sex cells lacks one chromosome (22). Thus, when it joins with a normal
sex cell (23 chromosomes), the zygote produce contains 45 chromosomes
only. The condition is called MONOSOMY
TURNER SYNDROME – people affected with this has only one X chromosome
with a genetic makeup of XO. They are short, sterile females, mentally retarded with
thick webbed necks
> when a normal gamete (23 chromosomes) joins with one that has 24
chromosomes, resulting in 47, the condition is called TRISOMY
KLINEFELTER SYNDROME – those affected with this have an extra X
chromosome forming a genetic make up of XXY. They are tall, slim males
that do not mature sexually and develop breast. Another example is a
metafemale. Females who are affected with this have genetic makeup XXX.
They are sterile and mentally retarded
JACOB SYNDROME – affects males with genetic make up YYX. They look
normal, some are fertile, others are not. They are tall and are antisocial
 GENETIC DISORDERS
SICKLE CELL ANEMIA
> hereditary blood disorder where in a person inherits two
abnormal copies of heamoglobin genes one from each parent
> cell assume abnormal rigid sickle-like shape
ALBINISM – a condition wherein a person inherits a recessive allele or group of
genes pigmentation from each parent, in this case, a defective production of enzyme
tyrosinase. Tyrosinase is needed in the formation of melanin, the normal human skin
pigment. In the absence of melanin, the skin is not protected from the Sun, ages
prematurely, and develops skin cancer. The eyes are colorless and cannot tolerate
light. Albinos squint in ordinary indoor lighting and have vision problems. They can
use tinted glasses or contact lenses for protection
CYSTIC FIBROSIS – inherited disorder that
causes severe damage to the lungs and digestive
system, affecting cells that produce mucus, sweat
and digestive juices. Secretion becomes thick and
sticky plugging the pore instead of lubricating
TAY-SACHS DISEASE – an inherited disorder
that progressively destroys nerve cells on the
brain and spinal cord
PHENYLKETONURIA (PKU) – rare genetic that can
cause serious mental retardation in infants. The infant
cannot break down phenylalanine (chemical commonly
found in food) that it builds up in the body in which the
brain is affected. This can be treated through a special diet.
HUNTINGTON DISEASE – an inherited disease that
causes the progressive breakdown of nerve cells in the brain
that affects muscle coordination leading to mental decline
and behavioural symptoms
HEMOPHILIA – a royal or blue blood disease.
Royalties are mostly affected. AN inherited disorder in which
the blood does not clot normally because it lacks sufficient
blood clotting proteins
AUTOSOME MUTATIONS – sex chromosomes are not
the only ones affected by mutations. The autosomes
may also be affected. These are some autosomes
mutations.
DOWN SYNDROME – is a condition wherein an individual has 47
chromosomes, with three copies of chromosome 21. They almost look
alike, with almond shape eyes, moon-shaped face, mentally retarded, and
sterile. They have short life span
EDWARD SYNDROME – involves individuals with extra chromosome #18.
Occurring in an average of three in ten thousand, they have malformed face and
feet, clenched fingers, small jaws, cleft palates, and harelipped. They are mentally
retarded and usually dies when they are 4 to 5 months old
PATAU SYNDROME – have an extra chromosome #13, with deformed
hands, feet, and face, harelipped and with cleft palate. They live for only a
few days to afew months. It occurs in two out of 10 000 births