DEE HWA LIONG ACADEMY

SHS GENERAL BIOLOGY 1

(UT1-UT3) MIDTERMS SEM1
MA’AM CHRISTINE MONTARIL
ADAPTED FROM: POWERPONT/LECTURE

COURSE OUTLINE: MIDTERMS Most non-neutral mutations are deleterious. In

1. Biology: What is the Study of Life? general, the more base pairs that are affected by
2. Cells and Tissues in the Body a mutation, the larger the effect of the mutation,
3. Cell Division: Mitosis and Meiosis and the larger the mutation's probability of being
4. Chromosomal Abnormalities deleterious.

CHROMOSOMAL ABNORMALITIES
GENE MUTATION

CANCER
• Apoptosis
• Benign = harmless
• Malignant = tumors that break away or
metastasize.
o metastasize tumors - it is going
to be more difficult to get rid of HOW DO MUTATIONS OCCUR?
them in the body. • hereditary mutations - are inherited
• tumor from a parent and are present
throughout a person’s life in virtually
• treatment to cancer
every cell in the body. These mutations
• surgery, radiation, chemotherapy, are also called germ line mutations
immunotherapy because they are present in the
parent’s egg or sperm cells, which are
WHAT IS THE MOLECULAR NATURE OF also called germ cells.
MUTATIONS?
• acquire (or somatic) mutations - occur
In biology, a mutation is the permanent alteration
at some time during a person’s life and
of the nucleotide sequence of the genome of an
are present only in certain cells, not in
organism, virus, or extra-chromosomal DNA or
every cell in the body. These changes
other genetic elements.
can be caused by environmental factors
such as ultraviolet radiation from the
Mutations result from errors during DNA
sun, or can occur if an error is made as
replication (meiosis) or other types of damage to
DNA copies itself during cell division.
DNA (caused by exposure to radiation or
carcinogens), which then may undergo error-
prone repair, or cause an error during other WHAT IS THE DIFFERENCE BETWEEN
forms of repair, or else may cause an error SPONTANEOUS MUTATIONS AND INDUCED
during replication (translesion synthesis). MUTATIONS?
Mutations may also result from insertion or • spontaneous mutations - results from
deletion of segments of DNA due to mobile natural changes in DNA
genetic elements. • induced mutations - are results from
changes caused environmental
Mutations are chemicals & radiations
changes in the • Any environmental agent that increases
genetic sequence, the rate of mutation above the
and they are a spontaneous is called a mutagen such
main cause of as chemicals & radiations
diversity among
organisms.

WHAT KINDS OF GENE MUTATIONS ARE

POSSIBLE?
Mutational effects can be beneficial, harmful, or
neutral, depending on their context or location.
SOMATIC MUTATION
• 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
germ line. 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.
GAMETE MUTATIONS
1. Passed onto future generations
2. In multicellular organisms, the term
mutation is generally used for germline
mutations
CHROMOSOMAL ABNORMALITIES
Can occur during meiosis:
• during the S PHASE of cell cycle –
mistakes in making sister chromatids
• during PROPHASE 1 – when crossing
over occurs
• during ANAPHASE 1 – separation of
homologous pairs
• during ANAPHASE 2 – separation of
sister chromatids
4 TYPES OF ERRORS IN GENE SEQUENCE
• deletion – gene sequence 12345 goes
to 1245;3 deleted
• duplication – gene sequence 12345
goes to 1232345; section 2,3 copied
twice
o during crossover, can get one
chromosome with deletion and
one with duplication
• inversion – 12345 goes to 12543
o one segment is turned around so
order reversed
• translocation – 12345 goes to
1238945
o a segment from another place or
another chromosome is inserted in
a gene sequence
MISTAKES DURING SEGREGATION
• during ANAPHASE, homologous
chromosomes separate
• sometimes, they do not separate,
leading to the formation of a gamete
with two copies of one chromosome
called nondisjunction
• after fertilization, the zygote will have 3
copies of one chromosome called
trisomy

meiosis I (right side) – both homologous pair of
chromosomes relocate to the same pole, which
results to unequal separation to meiosis II
meiosis II (left side) – sister chromatids from the
left side of the right cell migrates to the same
pole. Cell on the right separates abnormally,
while the cell on the left does not.
2 TYPES OF PRENATAL TESTING
• amniocentesis – removes amniotic
fluid from around fetus; culture cells; do
karyotype
• chorionic villi sampling – extensions
of placenta growing into uterus, sample
tissue and do karyotype
• karyotype – photographs of
chromosomes from rapidly dividing cells
are paired up and analyzed for
chromosomal defects
CHROMOSOMAL DISORDERS
Trisomy – an extra copy of one chromosome;
results from non-disjuction
• down syndrome – trisomy 21 (mental
retardation)
• edwards syndrome – trisomy 18; thin,
frail, feeding problems (1/10,000)
o unusually small head
o back of the head is prominent
o ears are malformed and low-set
o mouth and jaw are small (may
also have a cleft li or cleft palate)
o hands are clenced into fiists, and
the index finger overlaps the other
fingers
o clubfeet (or rocker bottom feet)
and toes may be webbed or fused
• patau syndrome – trisomy 13 (1/5000)
Translocation Down – extra chromosome
linked to another (usually 21, 13, 22, 15) and can
be inherited
Mosaic – disorder appears in some body cells
but not all
DELETIONS
a) cri-du-chat – deletion in chromosome
5; mental retardation, delayed
development, low birthweight, small
head, poor muscle tone and high
pitched cry
b) d-george syndrome – deletion on
chromosome 22; congenital heart
disease, cleft palate, learning difficulties
c) prader-willi (from mom) angelman
(from dad) – deletion in chromosome
15; PW mental retardation. short,
obese, small hands and fett, (angel
man jerky movements and
inappropriate laughter)
DUPLICATIONS
a) pallister killian – duplication in
chromosome 12; mental retardation,
coarse facial features, prominent
forehead, thin upper lip, thick lower lip,
hearing impaired and may live until 40
b) turner syndrome – (female
abnormality) only one X chromosome
(XO); short, webbed necks, small jaws,
lack prominent female sex
characteristics, do not ovulate (1/3000
to 1/5000 live female births)
 c) metafemales – (female abnormality) 1
or more extra X chromosomes; taller
than average with long legs, slender
torsos 1/1000 live births
d) klinefelter syndrome – (male
abnormality) males with one or more
extra X chromosomes; high pitched
voices, breast enlargement, sterile,
testes and prostate are small, treat with
extra testosterone
e) xyy syndrome – (male abnormality)
super males; tall, seem normal and can
live normal lives
missing chromosome is a common cause of
genetic disorders (birth defects).
• occurs during cell division when the
chromosomes do not separate properly
between the two cells (nondisjunction).
• chromosome abnormalities – occur in
1 of 160 live births.
Most cases of aneuploidy result in termination of
the developing fetus, but there can be cases of
live birth; the most common extra chromosomes
among live births are 21, 18 and 13.

CONSEQUENCES OF CHROMOSOMAL
SEGREGATION DURING MEIOSIS

chromosomal specific consequences

aberration chromosomes
involved

Polypoidy & 69, XXX, Does not

Triploidy XXY, XYY always
survive
Aneuploidy Nullisomy Lethal
(missing both
pair of Triploid Syndrome
homologs) Having a total chromosomes of 69. Either the
Autosomes Monosomy Pre- sperm or the egg has two full sets of
(one Implanation chromosomes, leading to a triploid (3n) baby.
chromosome Lehal
→ in humans, triploid babies will either
is missing)
miscarry or die within the first year of
Trisomy (one life.
extra
chromosome)

polyploidy – which a normally diploid cell or

organism requires one or more conditional sets
of chromosomes; so the polyploidy organism has
3 or more times the haploid chromosome
number.

nullisomic – is a genetic condition involving the

lack of both the normal chromosomal pairs for a
species (2n-2)

aneuploidy – is the presence of an abnormal

number of chromosomes in a cell,
→ for example, a human cell having 45 or
47 chromosomes instead of the usual
46. It does not include a difference of
one or more complete sets of
chromosomes, which is called
euploidy.

Is an abnormal number of chromosomes, and is

a type of chromosome abnormality. An extra or
 NONDISJUNCTION AND KARYOTYPES SUMMARY
1. Nondisjunction – this is cause of
Disjunction – the normal separation of several medical conditions in humans,
chromosomes in meiosis I or sister chromatids in including but not limited to:
meiosis II is termed as this. • patau syndrome – trisomy of
chromosome 13
When the separation is not normal, it is called • edward syndrome – trisomy of
nondisjunction. chromosome 18
• down syndrome – trisomy of
Nondisjunction - Nondisjunction ("not coming chromosome 21
apart") is the failure of chromosome pairs to • klinefelter syndrome – extra X
separate properly during meiosis stage 1 or chromosome in males
stage 2. • turner syndrome – lacking of one
X chromosomes in females
This could arise from a failure of homologous • triple X syndrome – an extra X
chromosomes to separate in meiosis I, or the chromosome in females
failure of sister chromatids to separate during • XYY syndrome – an extra Y
meiosis II or mitosis. chromosome in males

PRENATAL DIAGNOSIS

Amniocentesis
A small sample of the amniotic fluid surrounding
the baby is removed using a syringe.
• the fluid contains skin cells from the
baby.
• the skin cells are grown in the lab.

The chromosomes from the cells are magnified

under a microscope and a picture is taken.
• chromosomes are cut out and arranged
in homologous pairs in decreasing size
The result of this error is a cell with an imbalance order. This is called a karyotype.
of chromosomes. Such a cell is said to be
aneuploid.
• nondisjunction can occur in the meiosis
I or meiosis II, phases of cellular
reproduction, or during mitosis.
o this results in the production of
gametes which have either too
many or too few of a particular
chromosome
o is a common mechanism for
monosomy or trisomy.
• loss of a single chromosome (2n-1), in
which the daughter cell(s) with the
defect will have one chromosome
missing from one of its pairs, is referred
to as a monosomy.
• gaining a single chromosome, in which
the daughter cell(s) with the defect will
have one chromosome in addition to its
pairs is referred to as a trisomy.