Review in Science (3rd Quarter) Thyroid

Endocrine System • Located in the neck

• The endocrine system includes the endocrine glands and
their hormones
• The endocrine system regulates bodily functions through
the action of hormones.
• The function of the endocrine system is to secrete
hormones into the bloodstream.
• Hormone: A Chemical messenger that targets a specific
group of cells, to cause that group of cells to do some
activity or stop doing an activity.
• Exocrine glands release their secretions into ducts or
tubes
o Liver - Bile is released into the gallbladder,
then through a duct into the small intestine
o Pancreas - releases pancreatic juice into the
small intestine via a duct
• Endocrine Glands are called ductless glands
o – release hormones directly into the
bloodstream
o – Blood transports hormones throughout the
body
o – Each hormone acts on only a certain kind of
tissue called its target tissue.
• Each hormone acts on a certain kind of tissue called its
target tissue.
Human Endocrine Glands
• Pituitary
• Thyroid
• Parathyroid
• Adrenal
• Pancreas (Islets of Langerhans)
• Testes and Ovaries
• Releases hormone thyroxin
• Function is to regulate rates of metabolism in the
body
o Essential for normal physical and mental
development
• Oversecretion of thyroxin:
o Results in nervousness and weight loss
• Undersecretion of thyroxin:
o Results in cretinism (mental retardation,
small size) in children
• Iodine deficiency in your diet results in goiter
(enlargement of the thyroid gland)
Parathyroid
• The function is to control the metabolism of calcium
o Necessary for normal nerve and muscle
function, blood clotting, healthy bones, and
teeth
• Located in the back of the thyroid gland (in the neck)
• Hormone released is parathormone
• Undersecretion of parathormone results in nerve
disorders, brittle bones, and clotting problems
Adrenal Glands (Kidney Hats)
• Located at the top of each kidney
• Hormones released are cortisone and adrenaline
• The function of cortisone is to regulate
carbohydrate, protein, and fat metabolism
o promotes the conversion of fats and
proteins to glucose
• The function of adrenaline is to raise blood sugar
levels and increase heartbeat and breathing rates

Pituitary Adrenal
• The pituitary gland is a round organ about the size of a • Undersecretion of adrenaline results in the inability to deal
pea (~1 cm in diameter), located behind the bridge of with stress
the nose at the base of the brain
• Secretes 9 different hormones, which affect many Islet of Langerhans
different areas of the body, including: • Located on the pancreas
o Growth • Hormones secreted are insulin and glucagon
o Blood pressure • Insulin stimulates glucose uptake by cells
o Regulation of Pregnancy • Glucagon promotes the conversion of glycogen
o Breast milk production (animal-based carbohydrate) to glucose
o Sex organ functions in both men and women
o Thyroid gland function Blood Sugar Regulation
o Metabolism • Oversecretion of insulin results in low blood sugar
o Water regulation in the body (kidneys) • Undersecretion of insulin results in high blood sugar
o Temperature regulation o This can lead to a condition known as
A Few Pituitary Hormones diabetes
Hormone Function
Growth Hormone (GH) To increase body size during Diabetes-Type 1
childhood and adolescence; • Type 1- Usually found in children and young adults;
to maintain body size the body doesn’t make enough insulin
during adulthood • Symptoms:
Thyroid Stimulating To stimulate the thyroid to o Frequent urination
Hormone (TSH) produce thyroxin o Unusual thirst
Follicle Stimulating Regulate puberty, o Extreme hunger
Hormone (FSH) development, and o Unusual weight loss
reproductive processes o Extreme fatigue and Irritability
Luteinizing Hormone (LH) Stimulates the production
of estrogen and
testosterone

Growth Hormone
• Oversecretion of growth hormone:
o Giantism in childhood and acromegaly in adults
(bones of face, hands and feet enlarge)
• Undersecretion of growth hormone:
o Dwarfism in childhood
 • Diabetes- Type 2
• Type 2- Either the body doesn’t produce enough
insulin, or the cells ignore it.
o If you consume too much sugar over a long
period, your body has to release large
amounts of insulin. This can result in your
cells building up an insulin tolerance, which
means they won’t be affected by it.
• Symptoms:
o Any of the type 1 symptoms
o Frequent infections
o Blurred vision
o Cuts/bruises that are slow to heal
o Tingling/numbness in the hands/feet
o Recurring skin, gum, or bladder infections
Endocrine System Control
• Regulated by feedback mechanisms
• 2 types of feedback mechanisms
o positive feedback
o negative feedback
Reproductive System
Feedback Mechanisms
What is the reproductive system?
Negative Feedback mechanisms:
• Act like a thermostat in a home
• As the temperature cools, the thermostat detects
the change and triggers the furnace to turn on and
warm the house
• Once the temperature reaches its thermostat
setting, the furnace turns off
o Example: Body sugar increases after a meal,
Female Reproductive System
so the pancreas secretes insulin, which tells
Uterus
the body’s cells to take in glucose. Once
blood sugar levels reach normal, the
pancreas stops making insulin.
o Often used to maintain homeostasis
Negative Feedback
• Homeostasis is often maintained by two hormones
that have antagonistic effects
• Each hormone does the opposite of the other.
o For example, if the blood pressure drops
too low, the pituitary releases ADH, which
causes the kidneys to reabsorb more water.
If the blood pressure increases too much,
the heart will release ANH, which will cause
the kidneys to reabsorb less water.
Positive Feedback Mechanisms
• Positive feedback mechanisms control events that
can be out of control and do not require continuous
adjustment
• Rarely used to maintain homeostasis
• Example of positive feedback found in childbirth
o Oxytocin stimulates and enhances labor
contractions
o As labor continues, more oxytocin is
produced
o Intensifies contractions until the baby is
outside the birth canal
o Oxytocin production stops and labor
contractions stop
Key Terms
• Pseudohermaphrodite/Pseudohermaphroditism - A
condition in which the individual has a single
chromosomal and gonadal sex but combines
features of both sexes in the external genitalia,
causing doubt as to the true sex.
• Oviduct – The oviduct or fallopian tube in women is
a paired organ that is essential for fertility. A tube
that allows for the passage of eggs from an ovary.
• Tubal Ligation - Tubal ligation is a type of permanent
birth control. It's also known as having your tubes
tied or tubal sterilization.
• Ovulation – A phase of the female menstrual cycle
that involves the release of an egg (ovum) from one
of the ovaries.
• Spermatogonium – young sperm cell.
• Spermatozoa – matured sperm cell.
• Oogonium – young egg cell.
• Ovum – matured egg cell.
• The reproductive systems in both the male and
female consist of primary and secondary sex organs
and sex glands.
• The primary function of the reproductive system is
to perpetuate the species through sexual or germ-
cell fertilization and reproduction.
• The uterus is a hollow, muscular, pear-shaped organ
about the size of a woman’s clenched fist. The top is
tipped forward in a normal ‘anteflexion’ position. It
can be divided into the body or corpus, and the
bottom cervix. The rounded top portion, above the
fallopian tubes, is called the fundus.
• This is the site where the fetus develops during
pregnancy.
• The uterus is supported and held in position by some
ligaments. Trauma, disease, or multiple pregnancies
can weaken these ligaments and result in abnormal
positioning.
• The uterus wall has 3 layers: the outside layer called
the perimetrium, the muscular inside layer called
the myometrium, and the mucous membrane lining
the uterus called the endometrium.
• The uterus has 3 functions:
o The endometrium sheds the lining of the
uterus every 21 to 40 days by menstruation
o It provides a place for the protection and
nourishment of the fetus during pregnancy
o It contracts during labor to expel the fetus
Fallopian Tubes
• The fallopian tube is 4-6 inches long. The egg,
released from the ovary, is captured by the fimbria
and brought into the fallopian tube. The egg is
moved along inside the tube by muscular
contractions and the waving action of cilia. It takes
an egg about 3-4 days to travel the length of the
tube. If an egg is fertilized, it occurs here.
• Transports the ovum from the ovary to the uterus.
• This is the where the ovum is fertilized by the sperm.
• Transports the fertilized ovum (zygote) to the uterus
for implantation.
• Parts of Fallopian Tube:
o Isthmus – the portion that connects to the
uterus.
o Fimbria – the finger-like projections around
the opening that trap the egg as it leaves
the ovary.
o Infundibulum – the end of the tube.
o Ostium – the opening of the tube.
o Ampulla – this is where fertilization most
often takes place.
Ovaries
• Produces the female gamete that is the ovum.
• It also secretes the female sex hormones; an
example is the estrogen and progesterone.
• The two ovaries are attached to each side of the
uterus by a ligament. They are oval-shaped, about
the size of a large olive, and lie close to the fimbria at
the end of the fallopian tubes.
• Each ovary is filled, already at birth, with egg-
containing sacs called follicles. Each egg is called an
ovum.
Ovaries and Ova
• Once every 21 days, one follicle in one ovary ripens.
This mature follicle is a Graafian (GRAW fee un)
follicle.
• The follicle ruptures in response to hormones from
the pituitary gland, releasing the ovum/egg… a
process called ovulation.
• After the follicle ruptures, it becomes a mass of
yellow cells called the corpus luteum. This is a
temporary, progesterone-producing structure.
Vagina
• The vagina extends from the cervix to the outside of
the body. It is a 3 ½ inch long muscular tube that
expands in length and width during sexual arousal.
Female reproductive system: the vagina
• The vagina is the female organ for copulation (sexual
intercourse), receiving the seminal fluid from the
male penis. It is also a passageway for menstruation
or the birth of a fetus.
Cervix
• The narrow opening for sperms to travel from the
vagina to the uterus.
Vulva
• The vulva is 5 organs making up the external
genitalia of the female:
o Mons pubis: triangular-shaped pad of fatty
tissue over the pubis bone, covered with
pubic hair.
o Labia majora: 2 large folds of adipose tissue
on the sides of the vaginal opening
o Labia minora: 2 smaller folds of adipose
tissue on the inside of the labia majora
o Vestibule: area between labia with
openings for the vagina, urethra, and two
excretory ducts for Bartholin’s glands
(provide lubricant)
o Clitoris: a sensitive fold of tissue partially
covered by a hood.
• The perineum is the area located between the
vaginal opening and the anus. It is a muscular sheet
that can be torn during childbirth.
o Some doctors avoid uncontrolled tearing of
the perineum by making a surgical incision
called an episiotomy.
Breasts
• The breasts are the mammary glands, varying in size
according to age, heredity, and the amount of fatty
tissue present.
• Each breast has 15-20 glandular lobes separated by
connective tissue. After childbirth, the pituitary
gland stimulates these lobules with the hormone
prolactin… and they produce milk.
• The dark-colored circle at the tip of the breast is
called the areola (ah REE ah lah). It contains
sebaceous glands to keep the skin conditioned. In
the center is the nipple, where ducts from the
lobules open.
• The first secretion from the breast is not a true milk,
but a thin yellowish substance called colostrum.
o Colostrum contains nutrients and the
mother’s immunities that can protect the
baby.
Menstrual Cycle
• The onset of the menstrual cycle, or menarche,
begins at puberty and ceases at menopause.
• The cycle has 3 phases:
o The follicular phase is characterized by
menstruation when the thickened lining of
the endometrium is shed because no egg
was fertilized or implanted. Just before this
phase is a premenstrual period
characterized by hormonal and physical
changes.
o The ovulatory phase comes next. Estrogen
is the hormone produced by the ovaries,
which stimulates the maturation of a follicle
and thickens the endometrium.
o The luteal phase follows ovulation and is
characterized by the development of the
corpus luteum, the secretion of
progesterone, the preparation of the
endometrium for implantation of a
fertilized egg, and the formation of a thick
mucous to block the cervix once the egg
passes out of the fallopian tube.
Pregnancy
• At the moment of conception, a single sperm with 23
chromosomes (carrying genetic information from the
father) penetrates/fertilizes a single egg with 23
chromosomes (carrying genetic information from the
mother).
• The resulting cell, a zygote, now has 46
chromosomes. The cell begins dividing and is also
called a blastocyst. From week 2-8, it is called an
embryo.
• The fertilized egg implants in the uterus.
Progesterone production increases to signal a
pregnancy; it can be detected in urine and blood.
• The embryo is suspended in an amniotic sac
surrounded by fluid during the 280-day gestation
period.
• The umbilical cord attached to the navel connects it
to the placenta, where it gets nutrients and oxygen.
During the 1st trimester, all parts of the embryo are
formed.
• During the second trimester, all parts start to
function; during the last trimester the embryo is now
called a fetus and the main task is growth.
• Labor, characterized by muscle contractions, dilation
(to 10 cm) effacement (thinning)of the cervix, and
expulsion of the mucous plug that formed in the
cervix, signals the onset of parturition… the
childbirth process. The cephalic, or head-first
delivery, is the most common. Breech is a backward
presentation; Caesarian is delivered through an
incision in the abdomen.
• The umbilical cord is cut and clamped, and the
placenta (afterbirth) is delivered following the birth
of the baby.
• The newborn may be covered with traces of vernix
caseosa (cheesy coating) or lanugo (downy hair) that
protects the skin before birth.
• The health of the baby is immediately evaluated on
the APGAR scale. Color, heartbeat, reflexes, muscle
tone, and breathing are scored on a scale of 0-10.
• Pregnancy can be complicated by certain conditions:
o Placenta previa is the development of the
placenta over the opening of the cervix
o Preeclampsia is pregnancy-induced
hypertension (high blood pressure)
o Spontaneous abortion or miscarriage is the
loss of a fetus during the first 20 weeks,
often due to abnormalities, trauma, or
lifestyle choices.
Male Reproductive System
Scrotum
• A sac that covers and protects the testes.
• The scrotum is a pouch of skin suspended from the
perineal area and divided into two sacs… each
containing one testicle and epididymis.
• The scrotal tissue contracts in the absence of
sufficient heat, pulling the testes up closer to the
body where the temperature maintains the viability
of sperm.
Penis
• The organ that deposits the semen into the vagina.
• The urethra runs the length of the penis from the
bladder to the meatus (me Ā tus). The flaccid penis
fills with blood during arousal, causing an erection
and allowing for the function of
copulation/intercourse.
• A lubricant and smegma is produced under the
prepuce on the penis. This foreskin may be
circumcised/ removed for hygiene or religious
reasons. It covers the glans/head that is filled with
nerve endings.
Testes and Epididymis
• The testes produce sperm and secretes the male sex
hormones, testosterone and androgen.
• The oval-shaped testes are located in the scrotum
and are each divided into 250 lobules. Coiled within
the lobule are seminiferous tubes where the sperm
are formed.
• The mature sperm are stored in the epididymis, a
tube 13-20 feet in length, coiled and lying on the side
of each testicle.
Sperm
• The acrosome (AK roh zome) covering the head of
the sperm contains enzymes that help it penetrate
the ova. The head carries the genetic material. The
midpiece supplies energy. The tail or flagellum (flah
JELL um) provides motility.
• Sperm carry either an X/female OR Y/male
chromosome. Since all ova carry the X/female
chromosome, the male sperm does influence the
baby’s sex.
Vas deferens/Sperm ducts
• Carry sperm from the testes to the urethra.
• The vas deferens are muscular tubes transporting
sperm from the epididymis to the seminal vesicles.
Seminal Vesicles
• Store sperm and secretes fluid into the sperm ducts.
• The seminal vesicles produce a slightly alkaline fluid
that mixes with the sperm and becomes part of the
semen ejaculated during the male orgasm. It
protects the sperm from the acidity of the urethra.
Urethra
• Carries sperms from the sperm ducts to the outside
of the body
Prostate Gland
• Secretes fluid that activates the sperm.
• A mixture of this fluid and sperm is called semen.
• The prostate gland also secretes an alkaline fluid that
mixes with the sperm as part of the semen.
Enlargement of the prostate, benign prostatic
hyperplasia, obstructs the flow of urine through the
urethra.
Cowper’s Gland
• The Cowper’s or bulbourethral glands (bull boh your
REE thral) produce another mucous-alkaline
secretion in the urethra, excreted from the glands
just before ejaculation.
Nervous System Communication Between Neurons
• Control center for all body activities. • The use of neurotransmitters causes an electrical
• Major control system of homeostasis and the “main current
processing unit’ • There is enough electrical current in the brain to
• Responds and adapts to changes that occur both power a flashlight
inside and outside the body The correct sequence where electrical signals will pass if
o (Ex: pain, temperature, pregnancy) there is a stimulus:
• The central nervous system is made up of the brain, stimulus --- receptor --- sensory neuron --- spinal cord and
spinal cord, and nerves. brain --- motor sensor --- effector.
• Stimulus – A stimulus is any object or event that
Stimuli elicits a sensory or behavioral response in an
• Any environmental factors that are received by the organism.
nervous system. • Receptor – A cell or group of cells that receives
stimuli: Senses Organ.
The Two parts of Nervous System • Effector – Effectors are parts of the body such as
• Central Nervous System muscles and glands that produce a response to a
• Peripheral Nervous System detected stimulus.

Central Nervous System

• Made up of the brain and spinal cord
• Acts as body’s control center, coordinates body’s
activities
o Impulses travel through the neurons in your
body to reach the brain
Neurons
• microscopic nerve cells that make up the brain,
spinal cord, and nerves.
o 30,000 neurons can fit on a pinhead
• Each neuron contains:
• Cell body with nucleus.
• Dendrites - fibers that receive messages from other Brain
neurons. • A mass of 100 billion neurons located inside the
• Axons - fibers that send messages to other neurons. skull.
• Neurons do NOT touch; there is a gap between them • Learning occurs as more and stronger connections
called a synapse. are made between neurons.
• Messages are sent across the synapses by special
Parts of Brain
chemicals called neurotransmitters.
Cerebrum
Functional Classification of Neurons • The largest part of the human brain
Neurons are grouped functionally according to the direction • Responsible for:
the nerve impulse travels relative to the CNS. o Thought
• Sensory Neurons (afferent neurons) transmit o Language
impulses toward the CNS. They originate in the PNS o Senses
and terminate in the CNS. o Memory
o Types of Sensory Neurons: o Voluntary movement
▪ V – vision/eyes Cerebellum
▪ A – Auditory/ears • at the base of the brain
▪ T – Tactile/skin • Responsible for:
▪ G – Gustatory/tongue o Muscle coordination
▪ O – Olfactory/nose o Balance
• Motor Neurons (efferent neurons) transmit o Posture
impulses from the CNS to effector organs (muscles, Brain Stem
glands, and blood vessels). They originate in the CNS • connects the brain to the spinal cord
and terminate in the PNS. • Responsible for:
• Interneurons (association neurons) connect sensory o Breathing
neurons to motor neurons within the spinal cord and o Swallowing
brain. They originate and terminate in the CNS. They o Heartbeat
make up 99.98% of the neurons in the body. They o Blood pressure
form complex neuronal pathways, reflecting the vast
amount of information processed in the CNS. Lobes of the Brain
• Frontal Lobe
Neurons Classified by Function: Sensory vs. Motor Neurons • Temporal Lobe
• Sensory neurons enter the spinal cord. • Parietal Lobe
• Motor neurons leave the spinal cord. • Occipital Lobe
• Interneurons connect the sensory and motor
neurons. Retrieval of a Memory
• A memory is not a snapshot stored in the brain
o it must be put together from information
stored in various parts of the brain.
Spinal Cord The Central Dogma: Protein Synthesis
• Column of nerves from the brain to tailbone Key Terms:
protected by vertebrae of the spine Amino acids – The building block of protein.
• Responsible for: Codon - A codon is a sequence of three nucleotides that
o Conducting impulses between the brain and specifies one amino acid in the polypeptide chain.
the rest of the body Anticodon - The three-nucleotide sequence on the tRNA,
• Impulses may travel as fast as 268 miles/per hour which is complementary to the codon sequence on the mRNA
is referred to as the anticodon. During translation, an
Peripheral Nervous System anticodon is a complementary base paired with the codon
• Made up of all the nerves that carry messages to and via hydrogen bonding.
from the central nervous system.
o Similar to telephone wires that connect all DNA (Deoxyribonucleic Acid)
of our houses in the community • double stranded
• Central Nervous System and Peripheral Nervous • double-helix structure
System work together to make rapid changes in your • has deoxyribose sugar
body in response to stimuli. • made of 4 bases:
o Adenine (A)
2 parts of the Peripheral Nervous System o Thymine (T)
Somatic Nervous System o Guanine (G)
• Relay information between skin, skeletal muscles, o Cytosine (C)
and central nervous system • base pairings:
• You consciously control this pathway by deciding o A–T and G–C
whether or not to move muscles (except reflexes) • The DNA structure is discovered by Crick and
• Reflexes: Automatic response to stimulus Watson.

Autonomic Nervous System RNA (Ribonucleic Acid)

• Relay information from the central nervous system • single-stranded
to organs • has ribose sugar
• Involuntary: You do not consciously control these • made of 4 bases:
• Two parts of the Autonomic Nervous System o Adenine (A)
o Sympathetic Nervous System – control in o Uracil (U)
times of stress, such as the flight or fight o Guanine (G)
response o Cytosine (C)
o Parasympathetic Nervous System – • base pairings:
controls body in times of rest o A–U and G–C
• has 3 kinds:
Nerves o messenger RNA (mRNA)
• Visible bundles of axons and dendrites that extend ▪ Carry protein information or
from the brain and spinal cord to all other parts of genetic codes from DNA (nucleus)
the body to ribosomes.
• Responsibilities: ▪ mRNA is the result of transcription.
o Sensory nerves - carry messages from body o transfer RNA (tRNA)
to brain (pain, pressure, temperature). ▪ supplies amino acids to the
o Motor nerves - carry messages from brain ribosomes to be assembled as
to body to respond. protein.
▪ an adapter between the mRNA and
Problems of the Nervous System ribosome.
Concussion o ribosomal RNA (rRNA)
• A temporary disturbance of the brain’s ability to ▪ molecules form the core of a cell's
function due to a hard blow to the head. ribosomes (the structures in which
Paralysis protein synthesis takes place).
• A loss of sensation and movement of part of the
body due to an injury of the spinal cord or brain.
Parkinson’s Disease
• The brain does not produce enough of the
neurotransmitter that transmits messages from the
brain to the muscles
o Symptoms: tremors, rigid muscles, shuffling
walk, and loss of facial expression
Alzheimer’s Disease
• A gradual shrinking of the neurons in the cerebrum.
o Symptoms: memory loss, emotional
disturbances, inability to function on own,
death
Epilepsy
• Abnormal transmission of messages between the
neurons in the brain.
o Symptoms: seizures
Protein Synthesis RNA Transcription
• Process of making proteins
o Proteins are the ‘executors’ of cell life
activities.
• Protein is made up of amino acids

How is Protein made?

2 processes are involved:
• Transcription
o copies the sequence of DNA into mRNA.
• Translation
o translates the mRNA codon into amino acid
sequence to form a protein (with the help
of tRNA and rRNA).

Process of Transcription and Translation

• Step 1 - mRNA is made from a DNA template
• Step 2 - mRNA moves outside the nucleus and
attaches to a ribosome (a start codon must be read -
usually AUG)
• Step 3 - The next tRNA molecule moves in and
matches with the mRNA codon
• Step 4 - When the mRNA ends (a stop codon is read),
the translation ends and the protein is formed.

The Genital Code

Mutations Turner Syndrome
• Changes in the nucleotide sequence of DNA • A condition that affects only females, results when
• May occur in somatic cells (aren’t passed to one of the X chromosomes (sex chromosomes) is
offspring) missing or partially missing. Turner syndrome can
• May occur in gametes (eggs & sperm) and be passed cause a variety of medical and developmental
to offspring. problems, including short height, failure of the
ovaries to develop, and heart defects.
Are Mutations Helpful or Harmful?
• Mutations happen regularly Klinefelter’s Syndrome
• Almost all mutations are neutral • A genetic disorder that affects males.
• Chemicals & UV radiation cause mutations • Klinefelter’s syndrome occurs when a boy is born
• Many mutations are repaired by enzymes. with one or more extra X chromosomes. Most males
• Some types of skin cancers and leukemia result from have one Y and one X chromosome. Having extra X
somatic mutations chromosomes can cause a male to have some
• Some mutations may improve an organism’s survival physical traits unusual for males such as weaker
(beneficial). muscles, greater height, poor coordination, less body
hair, and sterility.
What is a chromosome?
• A chromosome is a DNA molecule that is tightly Gene Mutations
coiled around proteins called histones, which • Change in the nucleotide sequence of a gene.
support its structure, to form thread-like structures. • May only involve a single nucleotide
• May be due to copying errors, chemicals, viruses,
Types of Mutations etc.
• Types of Gene Mutations:
Chromosome Mutations o Point Mutations
May Involve: o Substitutions
• Changing the structure of a chromosome o Insertions
• The loss or gain of part of a chromosome. o Deletions
• Five types of Chromosome Mutations: o Frameshift
o Deletion
o Inversion Point Mutation
o Translocation • Change of a single nucleotide
o Nondisjunction • Includes the deletion, insertion, or substitution of
o Duplication ONE nucleotide in a gene.
• Sickle Cell disease is the result of one nucleotide
Deletion substitution
• Due to breakage • Occurs in the hemoglobin gene.
• A piece of a chromosome is lost.
Frameshift Mutation
Inversion • Inserting or deleting one or more nucleotides.
• Chromosome segment breaks off. • Changes the “reading frame” like changing a sentence
• Segment flips around backwards • Proteins built incorrectly.
• Segment reattaches • Example:
o Original:
Duplication ▪ The fat cat ate the wee rat.
• Occurs when a gene sequence is repeated. o Frame Shift (“a” added):
▪ The fat caa tet hew eer at.
Translocation Substitution Mutation
• Involves two chromosomes that are NOT • A substitution is a mutation that exchanges one base
homologous for another (i.e., a change in a single "chemical
• Part of one chromosome is transferred to another letter" such as switching an A to a G).
chromosome.
Insertion Mutation
Nondisjunction • The addition of one or more nucleotide base pairs
• Failure of chromosomes to separate during meiosis. into a DNA sequence.
• Causes gamete to have too many or too few
chromosomes Deletion Mutation
• A part of a chromosome or a sequence of DNA is lost
• Disorders:
during DNA replication.
o Down Syndrome – three 21st chromosomes
• Any number of nucleotides can be deleted, from a
o Turner Syndrome – single X chromosome
single base to an entire piece of chromosome.
o Klinefelter’s Syndrome – XXY chromosomes

Down Syndrome
Credits to:
• Down syndrome (DS or DNS), also known as trisomy
Secret Man from 10-Elijah
21, is a genetic disorder caused by the presence of
all or part of a third copy of chromosome 21. It is
typically associated with physical growth delays,
characteristic facial features, and mild to moderate
intellectual disability.