Beruflich Dokumente
Kultur Dokumente
Human body............................................................................................................... 2
Human Body Compositions..................................................................................... 2
Cells..................................................................................................................... 3
Tissues................................................................................................................. 3
Organs.................................................................................................................. 4
Musculoskeletal system.............................................................................................. 4
Digestive system........................................................................................................ 5
Respiratory System.................................................................................................... 6
Urinary System........................................................................................................... 7
Reproductive Organs............................................................................................... 7
MALE REPRODUCTIVE........................................................................................... 8
FEMALE REPRODUCTIVE....................................................................................... 8
Endocrine Glands....................................................................................................... 9
Circulatory System................................................................................................... 10
Cardiovascular system.......................................................................................... 11
Lymphatic system................................................................................................. 11
Nervous System....................................................................................................... 13
Central Nervous System........................................................................................ 14
Peripheral Nervous System................................................................................... 15
Sensory Organs..................................................................................................... 16
Neuron...................................................................................................................... 18
THREE TYPES OF NEURON..................................................................................19
Sensory Neurons............................................................................................. 19
Motor Neurons................................................................................................. 20
Interneurons.................................................................................................... 21
Transmission of Nerve Impulses............................................................................... 21
Nerve........................................................................................................................ 23
Sympathetic and Parasympathetic..........................................................................25
The sympathetic nervous system..........................................................................25
The parasympathetic nervous system..................................................................26
Disorders of the Nervous System............................................................................. 28
Endocrine Disorders................................................................................................. 32
Types of Endocrine Disorders:...............................................................................33
Brain Structures and their Functions........................................................................34
DNA.......................................................................................................................... 37
Supercoiling........................................................................................................... 38
Chromosomes........................................................................................................... 39
Gene......................................................................................................................... 40
DNA Transcription, Replication, Translation..............................................................41
Transcription............................................................................................................. 41
Karyotype................................................................................................................. 46
Gel electrophoresis................................................................................................... 47
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UNIT I: BODY REGULATIONS
Human body
The human body is the entire structure of a human being. It is composed of many
different types of cells that together create tissues and subsequently organ
systems. They ensure homeostasis and viability of human body.
It comprises a head, neck, trunk (which includes the thorax and abdomen), arms
and hands, legs and feet.
The study of the human body involves anatomy, physiology, histology and
embryology. The body varies anatomically in known ways. Physiology focuses on the
systems and organs of the human body and their functions. Many systems and
mechanisms interact in order to maintain homeostasis, with safe levels of
substances such as sugar and oxygen in the blood.
The adult male body is about 60% water for a total water content of some 42 litres.
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This is made up of about
19 litres of extracellular
fluid including about 3.2
litres of blood plasma and
about 8.4 litres of
interstitial fluid, and about
23 litres of fluid inside
cells.
Cells
The body contains trillions of cells, the fundamental unit of life. At maturity, there
are roughly 37.2 trillion cells in the body; an estimate arrived at by totaling the cell
numbers of all the organs of the body and cell types. The body also plays the role of
host to trillions of cells which reside in the gastrointestinal tract and on the skin.
[citation needed] Not all parts of the body are made from cells. Cells sit in an
extracellular matrix that consists of proteins such as collagen, surrounded by
extracellular fluids.
Cells in the body function because of DNA. DNA sits within the nucleus of a cell.
Here, parts of DNA are copied and sent to the body of the cell via RNA. The RNA is
then used to create proteins which form the basis for cells, their activity, and their
products. Not all cells have DNA - some cells such as mature red blood cells lose
their nucleus as they mature.
Tissues
The body consists of many different types of tissue, defined as cells that act with a
specialized function. The study of tissues is called histology and often occurs with a
microscope. The body consists of four main types of tissues - lining cells (epithelia),
connective tissue, nervous tissue, and muscle tissue.
Cells that lie on surfaces exposed to the outside world or gastrointestinal tract
(epithelia) or internal cavities (endothelium) come in numerous shapes and forms -
from single layers of flat cells, to cells with small beating hair-like cilia in the lungs,
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to column-like cells that line the stomach. Endothelial cells are cells that line
internal cavities including blood vessels and glands. Lining cells regulate what can
and can't pass through them, protect internal structures, and function as sensory
surfaces.
Organs
This article contains a list of organs of the human body. There are approximately 79
organs, though there is no standard definition of what constitutes an organ and
some tissue groups' status as one is debated.
Musculoskeletal system
(Also known as the locomotors system, and previously the activity system)
is an organ system that gives humans the ability to move using their
muscular and skeletal systems. The
musculoskeletal system provides form,
support, stability, and movement to the body.
This system describes how bones are connected to other bones and muscle
fibers via connective tissue such as tendons and ligaments. The bones
provide stability to the body. Muscles keep bones in place and also play a
role in the movement of bones. To allow motion, different bones are
connected by joints. Cartilage prevents the bone ends from rubbing directly
onto each other. Muscles contract to move the bone attached at the joint.
There are, however, diseases and disorders that may adversely affect the
function and overall effectiveness of the system. These diseases can be
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difficult to diagnose due to the close relation of the musculoskeletal system
to other internal systems. The musculoskeletal system refers to the system
having its muscles attached to an internal skeletal system and is necessary
for humans to move to a more favorable position. Complex issues and
injuries involving the musculoskeletal system are usually handled by a
physiatrist (specialist in physical medicine and rehabilitation) or an
orthopedic surgeon.
Digestive system
The human digestive system consists of the gastrointestinal tract plus the
accessory organs of digestion (the tongue, salivary glands, pancreas, liver,
and gallbladder). In this system, the process of digestion has many stages,
the first of which starts in the mouth. Digestion involves the breakdown of
food into smaller and smaller components, until they can be absorbed and
assimilated into the body.
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Chewing, in which food
is mixed with saliva
begins the process of
digestion. This produces
a bolus which can be
swallowed down the
esophagus and into the
stomach. Here it is
mixed with gastric juice
until it passes into the
duodenum, where it is
mixed with a number of
enzymes produced by
the pancreas. Saliva
also contains a catalytic
enzyme called amylase
which starts to act on
food in the mouth.
Another digestive
enzyme called lingual
lipase is secreted by
some of the lingual
papillae on the tongue and also from serous glands in the main salivary
glands. Digestion is helped by the mastication of food by the teeth and also
by the muscular actions of peristalsis and segmentation contractions. Gastric
juice in the stomach is essential for the continuation of digestion as is the
production of mucus in the stomach.
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Respiratory System
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Urinary System
The urinary system, also known as the renal system, consists of the kidneys,
ureters, bladder, and the urethra. Each kidney consists of millions of
functional units called nephrons. The purpose of the renal system is to
eliminate wastes from the body, regulate blood volume and blood pressure,
control levels of electrolytes and
metabolites, and regulate blood pH.
The kidneys have an
extensive blood supply via
the renal arteries which leave the kidneys
via the renal vein. Following
filtration of blood and further processing,
wastes (in the form of urine) exit the
kidney via the ureters, tubes
made of smooth muscle fibers that
propel urine towards the
urinary bladder, where it is stored and
subsequently expelled from the body by urination (voiding). The female and
male urinary system is very similar, differing only in the length of the
urethra.
Urine is formed in the kidneys through a filtration of blood. The urine is then
passed through the ureters to the bladder, where it is stored. During
urination, the urine is passed from the bladder through the urethra to the
outside of the body.
8002,000 milliliters (mL) of urine are normally produced every day in a
healthy human. This amount varies according to fluid intake and kidney
function.
Reproductive Organs
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internal genitalia. The characteristics that begin to appear during puberty,
such as, in humans, pubic hair on both sexes and facial hair on the male, are
known as secondary sex characteristics.
Mosses, ferns, and some similar plants have gametangia for reproductive
organs, which are part of the gametophyte. The flowers of flowering plants
produce pollen and egg cells, but the sex organs themselves are inside the
gametophytes within the pollen and the ovule. Coniferous plants likewise
produce their sexually reproductive structures within the gametophytes
contained within the cones and pollen. The cones and pollen are not
themselves sexual organs.
MALE REPRODUCTIVE
The male reproductive system consists of a number of sex organs that play a
role in the process of
human reproduction.
These organs are located
on the outside of the body
and within the pelvis.
FEMALE REPRODUCTIVE
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The female reproductive system (or female genital system) is made up of the
internal and external sex organs that function in human reproduction. The
female reproductive system is immature at birth and develops to maturity at
puberty to be able to produce gametes, and to carry a fetus to full term. The
internal sex organs are the uterus and Fallopian tubes, and the ovaries. The
uterus or womb accommodates the embryo which develops into the fetus.
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Endocrine Glands
Endocrine glands are glands of the endocrine system that secrete their products,
hormones, directly into the blood rather than through a duct. The major glands of
the endocrine system include
the pineal gland, pituitary gland,
pancreas, ovaries, testes,
thyroid gland, parathyroid
gland, hypothalamus and
adrenal glands. The
hypothalamus and pituitary
gland are neuroendocrine
organs. Local chemical
messengers, not generally
considered part of the endocrine
system, include autocrines,
which act on the cells that
secrete them, and paracrines,
which act on a different cell type
nearby.
Circulatory System
The circulatory system, also called the cardiovascular system or the vascular
system, is an organ system that permits blood to circulate and transport nutrients
(such as amino acids and electrolytes), oxygen, carbon dioxide, hormones, and
blood cells to and from the cells in the body to provide nourishment and help in
fighting diseases, stabilize temperature and pH, and maintain homeostasis. The
study of the blood flow is called hemodynamics. The study of the properties of the
blood flow is called hemorheology.
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The circulatory system is
often seen to comprise two
separate systems: the
cardiovascular system, which
distributes blood, and the
lymphatic system, which
circulates lymph. The passage
of lymph for example takes
much longer than that of
blood. Blood is a fluid
consisting of plasma, red
blood cells, white blood cells,
and platelets that is circulated
by the heart through the
vertebrate vascular system,
carrying oxygen and nutrients
to and waste materials away
from all body tissues. Lymph
is essentially recycled excess
blood plasma after it has been
filtered from the interstitial
fluid (between cells) and
returned to the lymphatic
system. The cardiovascular (from Latin words meaning "heart" and "vessel") system
comprises the blood, heart, and blood vessels. The lymph, lymph nodes, and lymph
vessels form the lymphatic system, which returns filtered blood plasma from the
interstitial fluid (between cells) as lymph.
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Cardiovascular system
The essential components of the human cardiovascular system are the heart,
blood and blood vessels. It includes the pulmonary circulation, a "loop"
through the lungs where blood is oxygenated; and the systemic circulation, a
"loop" through the rest of the body to provide oxygenated blood. The
systemic circulation can also be seen to function in two
partsa macrocirculation and a
microcirculation. An
average adult contains five
to six quarts (roughly 4.7 to
5.7 liters) of blood,
accounting for
approximately 7% of their total
body weight. Blood consists of plasma,
red blood cells, white blood
cells, and platelets. Also, the
digestive system works with
the circulatory system to
provide the nutrients the
system needs to keep the heart
pumping.
The cardiovascular systems of humans are closed, meaning that the blood
never leaves the network of blood vessels. In contrast, oxygen and nutrients
diffuse across the blood vessel layers and enter interstitial fluid, which
carries oxygen and nutrients to the target cells, and carbon dioxide and
wastes in the opposite direction. The other component of the circulatory
system, the lymphatic system, is open.
Lymphatic system
The lymphatic system is part of the circulatory system and a vital part of the
immune system, comprising a network of lymphatic vessels that carry a clear fluid
called lymph (from Latin, lympha meaning "water" directionally towards the heart.
The lymphatic system was first described
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The other main function is that of defense in the immune system. Lymph is very
similar to blood plasma: it contains lymphocytes and other white blood cells. It also
contains waste products and cellular debris together with bacteria and proteins.
Associated organs composed of lymphoid tissue are the sites of lymphocyte
production. Lymphocytes are concentrated in the lymph nodes. The spleen and the
thymus are also lymphoid organs of the immune system.
The tonsils are lymphoid organs that are also associated with the digestive system.
Lymphoid tissues contain lymphocytes, and also contain other types of cells for
support. The system also includes all the structures dedicated to the circulation and
production of lymphocytes (the primary cellular component of lymph), which also
includes the bone marrow, and the lymphoid tissue associated with the digestive
system.
The blood does not come into direct contact with the parenchymal cells and tissues
in the body (except in case of an injury causing rupture of one or more blood
vessels), but
constituents of the
blood first exit the microvascular
exchange blood vessels to become
interstitial fluid, which comes into contact with
the parenchymal cells of the body. Lymph
is the fluid that is formed when interstitial fluid
enters the initial lymphatic vessels of the
lymphatic system. The lymph is then moved along the
lymphatic vessel network by either intrinsic
contractions of the lymphatic
passages or by extrinsic compression of the lymphatic
vessels via external tissue forces (e.g., the
contractions of skeletal
muscles), or by lymph hearts in some
animals. The organization of lymph nodes and
drainage follows the organization of the body
into external and internal regions; therefore, the
lymphatic drainage of the head, limbs, and body cavity walls follows an external
route, and the lymphatic drainage of the thorax, abdomen, and pelvic cavities
follows an internal route. Eventually, the lymph vessels empty into the lymphatic
ducts, which drain into one of the two subclavian veins, near their junction with the
internal jugular veins.
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Nervous System
The nervous system is the part of an animal's body that coordinates its actions and
transmits signals to and from different parts of its body. Nervous tissue first arose in
wormlike organisms about 550 to 600 million years ago. In vertebrate species it
consists of two main parts, the central nervous system (CNS) and the peripheral
nervous system (PNS). The CNS contains the brain and spinal cord. The PNS consists
mainly of nerves, which are enclosed bundles of the long fibers or axons that
connect the CNS to every other part of the body. Nerves that transmit signals from
the brain are called motor or efferent nerves, while those nerves that transmit
information from the body to the CNS are called sensory or afferent. Most nerves
serve both functions and are called mixed nerves. The PNS is divided into a) somatic
and
b) Autonomic nervous
system, and c) the enteric
nervous system. Somatic
nerves mediate voluntary
movement. The autonomic
nervous system is further
subdivided into the
sympathetic and the
parasympathetic nervous
systems. The sympathetic
nervous system is activated
in cases of emergencies to
mobilize energy, while the
parasympathetic nervous
system is activated when
organisms are in a relaxed
state. The enteric nervous
system functions to control
the gastrointestinal system.
Both autonomic and enteric
nervous systems function
involuntarily. Nerves that exit
from the cranium are called
cranial nerves while those
exiting from the spinal cord
are called spinal nerves.
At the cellular level, the nervous system is defined by the presence of a special type
of cell, called the neuron, also known as a "nerve cell". Neurons have special
structures that allow them to send signals rapidly and precisely to other cells. They
send these signals in the form of electrochemical waves traveling along thin fibers
called axons, which cause chemicals called neurotransmitters to be released at
junctions called synapses. A cell that receives a synaptic signal from a neuron may
be excited, inhibited, or otherwise modulated. The connections between neurons
can form neural circuits and also neural networks that generate an organism's
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perception of the world and determine its behavior. Along with neurons, the nervous
system contains other specialized cells called glial cells (or simply glia), which
Nervous systems are found in most multicellular animals, but vary greatly in
complexity. The only multicellular animals that have no nervous system at all are
sponges, placozoans, and mesozoans, which have very simple body plans. The
nervous systems of the radially symmetric organisms ctenophores (comb jellies)
and cnidarians (which include anemones, hydras, corals and jellyfish) consist of a
diffuse nerve net. All other animal species, with the exception of a few types of
worm, have a nervous system containing a brain, a central cord (or two cords
running in parallel), and nerves radiating from the brain and central cord. The size
of the nervous system ranges from a few hundred cells in the simplest worms, to
around 300 billion cells in African elephants.
The central nervous system functions to send signals from one cell to others or from
one part of the body to others and to receive feedback. Malfunction of the nervous
system can occur as a result of genetic defects, physical damage due to trauma or
toxicity, infection or simply of ageing. The medical specialty of neurology studies
disorders of the nervous system and looks for interventions that can prevent or
treat them. In the peripheral nervous system, the most common problem is the
failure of nerve conduction, which can be due to different causes including diabetic
neuropathy and demyelinating disorders such as multiple sclerosis and amyotrophic
lateral sclerosis.
The central nervous system (CNS) is the part of the nervous system consisting of
the brain and spinal cord. The central nervous system is so named because it
integrates information it receives from, and coordinates and influences the activity
of all parts of the bodies of bilaterally symmetric animalsthat is, all multicellular
animals except sponges and radially symmetric animals such as jellyfishand it
contains the majority of the nervous system.
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Many consider the retina and the optic nerve (2nd cranial
nerve), as well as the olfactory nerves (1st) and olfactory
epithelium as parts of the CNS, synapsing directly on brain
tissue without intermediate ganglia. Following this
classification [which?] the olfactory epithelium is the
only central nervous tissue in direct contact with the
environment, which opens up for therapeutic treatments.
The CNS is contained within the dorsal body cavity, with the brain
housed in the cranial cavity and the spinal cord in the
spinal canal. In vertebrates, the brain is protected by
the skull, while the spinal cord is protected by the vertebrae, both
enclosed in the meninges.
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Peripheral Nervous System
The peripheral nervous system (PNS) is the part of the nervous system that consists
of the nerves and ganglia outside of the brain and spinal cord. The main function of
the PNS is to connect the central nervous system (CNS) to the limbs and organs,
essentially serving as a
communication relay
going back and forth
between the brain and
spinal cord with the
rest of the body. Unlike
the CNS, the PNS is not
protected by the bone
of spine and skull, or by
the bloodbrain barrier,
which leaves it
exposed to toxins and
mechanical injuries.
The peripheral nervous
system is mainly
divided into the
somatic nervous
system and the
autonomic nervous
system. In the somatic
nervous system, the
cranial nerves are part
of the PNS with the
exception of cranial
nerve II, the optic
nerve, along with the
retina. The second
cranial nerve is not a
true peripheral nerve
but a tract of the
diencephalon. Cranial nerve ganglia originate in the CNS. However, the remaining
ten cranial nerve axons extend beyond the brain and are therefore considered part
of the PNS. The Autonomic nervous system is an involuntary control of smooth
muscle. The connection between CNS and organs allows the system to be in two
different functional states: sympathetic and parasympathetic.
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Sensory Organs
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Other animals also have receptors to sense the world around them, with degrees of
capability varying greatly between species. Humans have a comparatively weak
sense of smell and a stronger sense of sight relative to many other mammals while
some animals may lack one or more of the traditional five senses. Some animals
may also intake and interpret sensory stimuli in very different ways. Some species
of animals are able to sense the world in a way that humans cannot, with some
species able to sense electrical and magnetic fields, and detect water pressure and
currents. Integumentary System
The integumentary system is the organ system that protects the body from various
kinds of damage, such as loss of water or abrasion from outside. The system
comprises the skin and its appendages (including hair, scales, feathers, hooves, and
nails). The integumentary system has a variety of functions; it may serve to
waterproof, cushion, and protect the deeper tissues, excrete wastes, and regulate
temperature, and is the attachment site for sensory receptors to detect pain,
sensation, pressure, and temperature. In most terrestrial vertebrates with
significant exposure to sunlight, the integumentary system also provides for vitamin
D synthesis.
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UNIT II : NEURONS
Neuron
A neuron (also known as a neurone or nerve cell) is an electrically excitable
cell that processes and transmits information through electrical and chemical
signals. These signals between neurons occur via synapses, specialized
connections with other cells. Neurons can connect to each other to form
neural networks. Neurons are the core components of the brain and spinal
cord of the central nervous system (CNS), and of the ganglia of the
peripheral nervous system (PNS).
There
are
several types of specialized neurons. Sensory neurons respond to stimuli
such as touch, sound or light and all other stimuli affecting the cells of the
sensory organs that then send signals to the spinal cord and brain. Motor
neurons receive signals from the brain and spinal cord to cause muscle
contractions and affect glandular outputs. Interneurons connect neurons to
other neurons within the same region of the brain, or spinal cord in neural
networks.
A typical neuron consists of a cell body (soma), dendrites, and an axon. The
term neurite is used to describe either a dendrite or an axon, particularly in
its undifferentiated stage. Dendrites are thin structures that arise from the
cell body, often extending for hundreds of micrometres and branching
multiple times, giving rise to a complex "dendritic tree". An axon (also called
a nerve fiber when myelinated) is a special cellular extension (process) that
arises from the cell body at a site called the axon hillock and travels for a
distance, as far as 1 meter in humans or even more in other species. Nerve
fibers are often bundled into fascicles, and in the peripheral nervous system,
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bundles of fascicles make up nerves (like strands of wire make up cables).
The cell body of a neuron frequently gives rise to multiple dendrites, but
never to more than one axon, although the axon may branch hundreds of
times before it terminates. At the majority of synapses, signals are sent from
the axon of one neuron to a dendrite of another. There are, however, many
exceptions to these rules: for example, neurons can lack dendrites, or have
no axon, and synapses can connect an axon to another axon or a dendrite to
another dendrite.
In most cases, neurons are generated by special types of stem cells. Neurons
in the adult brain generally do not undergo cell division. Astrocytes are star-
shaped glial cells that have also been observed to turn into neurons by virtue
of the stem cell characteristic pluripotency. Neurogenesis largely ceases
during adulthood in most areas of the brain.[citation needed] However, there
is strong evidence for generation of substantial numbers of new neurons in
two brain areas, the hippocampus and olfactory bulb.
Sensory Neurons
Motor Neurons
Interneurons
Sensory Neurons
Sensory neurons (also called sensory receptor cells) are neurons that convert a
specific type of stimulus into action potentials or graded potentials in the same cell
or in an adjacent one. This process is called transduction.
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This sensory information travels along a sensory nerve to the brain or spinal cord.
The stimulus can be coming from outside of the body, for example light and sound,
or from inside the body, for example blood pressure or the sense of body position.
Different types of sensory neurons respond to different kinds of stimuli.
Motor Neurons
A motor neuron (or motoneuron) is a nerve cell (neuron) whose cell body is located
in the spinal cord and whose fiber (axon) projects outside the spinal cord to directly
or indirectly control effector organs, mainly muscles and glands. Motor neurons'
axons are efferent nerve fibers that carry signals from the spinal cord to the
effectors to produce effects. Types of motor neurons are alpha motor neurons, beta
motor neurons, and gamma motor neurons.
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There are upper motor neurons and lower motor neurons, with the cell type
described above being a lower motor
neuron. Upper motor neurons are
cortico- spinal interneurons that
arise from the motor cortex
and descend to the
spinal cord where
they activate the lower
motor neurons
through synapses. The
term 'motor neuron' is
usually restricted to the efferent
neurons that actually innervate
muscles (the lower motor neurons).
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Interneurons
An interneuron (also called relay neuron, association neuron, connector neuron,
intermediate neuron or local circuit neuron) is one of the three classifications of
neurons found in the human body.[citation needed] Interneurons create neural
circuits, enabling communication between sensory or motor neurons and the central
nervous system (CNS). They have been found to function in reflexes, neuronal
oscillations, and neurogenesis in the adult mammalian brain.
Interneurons can be further broken down into two groups: local interneurons, and
relay interneurons. Local interneurons have short axons and form circuits with
nearby neurons to analyze small pieces of information. Relay interneurons have
long axons and connect circuits of neurons in one region of the brain with those in
other regions. The interaction between interneurons allow the brain to perform
complex functions such as learning, and decision-making.
The transmission of a nerve impulse along a neuron from one end to the other
occurs as a result of electrical changes across the membrane of the neuron. The
membrane of an unstimulated neuron is polarizedthat is, there is a difference in
electrical charge between the outside and inside of the membrane. The inside is
negative with respect to the outside.
Polarization is established by maintaining an excess of sodium ions (Na +) on the
outside and an excess of potassium ions (K +) on the inside. A certain amount of Na
+ and K + is always leaking across the membrane through leakage channels, but Na
+/K + pumps in the membrane actively restore the ions to the appropriate side.
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The main contribution to the resting membrane potential (a polarized nerve) is the
difference in permeability of the resting membrane to potassium ions versus sodium
ions. The resting membrane is much more permeable to potassium ions than to
sodium ions resulting in slightly more net potassium ion diffusion (from the inside of
the neuron to the outside) than sodium ion diffusion (from the outside
Of the neuron to the inside) causing the slight difference in polarity right along the
membrane of the axon.
Other ions, such as large, negatively charged proteins and nucleic acids, reside
within the cell. It is these large, negatively charged ions that contribute to the
overall negative charge on the inside of the cell membrane as compared to the
outside.
In addition to crossing the membrane through leakage channels, ions may cross
through gated channels. Gated channels open in response to neurotransmitters,
changes in membrane potential, or other stimuli.
The following events characterize the transmission of a nerve impulse (see Figure
1):
Resting potential. The resting potential describes the unstimulated, polarized state
of a neuron (at about 70 millivolts).
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The following four steps describe the initiation of an impulse to the resetting of a
neuron to prepare for a second stimulation:
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Refractory period. With the passage of the
action potential, the cell membrane is in an
unusual state of affairs. The membrane is
polarized, but the Na + and K + are on the wrong sides
of the membrane. During this refractory period, the
axon will not respond to a new stimulus. To
reestablish the original distribution of these ions, the Na
+ and K + are returned to their resting potential
location by Na +/K + pumps in the cell membrane.
Once these ions are completely returned to their resting
potential location, the neuron is ready for another stimulus.
Nerve
In the central nervous system, the analogous structures are known as tracts.
Neurons are sometimes called nerve cells, though this term is potentially misleading
since many neurons do not form nerves, and nerves also include non-neuronal
Schwann cells that coat the axons in myelin.
Each nerve is a cordlike structure containing bundles of axons. Within a nerve, each
axon is surrounded by a layer of connective tissue called the endoneurium. The
axons are bundled together into groups called fascicles, and each fascicle is
wrapped in a layer of connective tissue called the perineurium. Finally, the entire
nerve is wrapped in a layer of connective tissue called the epineurium.
Anatomy
Nerves are categorized into three groups based on the direction that signals
are conducted:
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Efferent nerves conduct signals
from the central nervous system
along motor neurons to their
target muscles and glands.
Mixed nerves contain both afferent and
efferent axons, and thus conduct both
incoming sensory information and
outgoing muscle commands in the same
bundle.
Nerves can be categorized into two
groups based on where they connect to
the central nervous system:
Cross-section of a nerve
Each nerve is covered externally by a dense sheath of connective tissue, the
epineurium. Underlying this is a layer of flat cells, the perineurium, which forms a
complete sleeve around a bundle of axons. Perineurial septae extend into the nerve
and subdivide it into several bundles of fibres. Surrounding each such fibre is the
endoneurium. This forms an unbroken tube from the surface of the spinal cord to
the level where the axon synapses with its muscle fibres, or ends in sensory
receptors. The endoneurium consists of an inner sleeve of material called the
glycocalyx and an outer, delicate, meshwork of collagen
fibres. Nerves are bundled along with blood vessels, since the neurons of a nerve
have fairly high energy requirements.
Within the endoneurium, the individual nerve fibres are surrounded by a low protein
liquid called endoneurial fluid. This acts in a similar way to the cerebrospinal fluid in
the central nervous system and constitutes a blood-nerve barrier similar to the
blood-brain barrier. Molecules are thereby prevented from crossing the blood into
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the endoneurial fluid. During the development of nerve edema from nerve irritation
or (injury), the amount of endoneurial fluid may increase at the site of irritation. This
increase in fluid can be visualized using magnetic resonance neurography, and thus
MR neurography can identify nerve irritation and/or injury.
The sympathetic nervous system (SNS) is one of the two main divisions
of the autonomic nervous system, the other being the parasympathetic nervous
system. The autonomic nervous
system functions to regulate the
body's unconscious actions. The
sympathetic nervous system's
primary process is to stimulate the
body's fight-or-flight response. It is,
however, constantly active at a basic
level to maintain homeostasis. The
sympathetic nervous system is
described as being complementary
to the parasympathetic nervous
system which stimulates the body to
"feed and breed" and to (then) "rest-
and-digest".
Structure
There are two kinds of neurons
involved in the transmission of any
signal through the sympathetic
system: pre-ganglionic and post-
ganglionic. The shorter preganglionic
neurons originate from the
thoracolumbar region of the spinal
cord specifically at T1 to L2~L3, and
travel to a ganglion, often one of the
paravertebral ganglia, where they
synapse with a postganglionic
neuron. From there, the long
postganglionic neurons extend
across most of the body.
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The two exceptions mentioned above are postganglionic neurons of sweat glands
and chromaffin cells of the adrenal medulla. Postganglionic neurons of sweat glands
release acetylcholine for the activation of muscarinic receptors, except for areas of
thick skin, the palms and the plantar surfaces of the feet, where norepinephrine is
released and acts on adrenergic receptors. Chromaffin cells of the adrenal medulla
are analogous to post-ganglionic neurons; the adrenal medulla develops in tandem
with the sympathetic nervous system and acts as a modified sympathetic ganglion.
Within this endocrine gland, pre-ganglionic neurons synapse with chromaffin cells,
stimulating the chromaffin to release norepinephrine and epinephrine directly into
the blood.
Structure
The parasympathetic nerves are autonomic or visceral branches of the peripheral
nervous system (PNS). Parasympathetic nerve supply arises through three primary
areas:
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Some of the cranial nerves in the cranium, namely the preganglionic
parasympathetic nerves (CN III, CN VII, and CN IX) usually arise from specific
nuclei in the central nervous system (CNS) and synapse at one of four
parasympathetic ganglia: ciliary, pterygopalatine, otic, or submandibular.
From these four ganglia the parasympathetic nerves complete their journey
to target tissues via trigeminal branches (ophthalmic nerve, maxillary nerve,
mandibular nerve).
The vagus nerve does not participate in these cranial ganglia as most of its
parasympathetic fibers are destined for a broad array of ganglia on or near
thoracic viscera (esophagus, trachea, heart, lungs) and abdominal viscera
(stomach, pancreas, liver, kidneys). It travels all the way down to the junction
between the midgut and hindgut, just before the splenic flexure of the
transverse colon.
The pelvic splanchnic efferent preganglionic nerve cell bodies reside in
the lateral gray horn of the spinal cord at the T12-L1 vertebral levels (the
spinal cord terminates at the L1-L2 vertebrae with the conus medullaris), and
their axons exit the vertebral column as S2-S4 spinal nerves through the
sacral foramina. Their axons continue away from the CNS to synapse at an
autonomic ganglion. The parasympathetic ganglion where these
preganglionic neurons synapse will be close to the organ of innervation. This
differs from the sympathetic nervous system, where synapses between pre-
and post-ganglionic efferent nerves in general occur at ganglia that are
farther away from the target organ.
As in the sympathetic nervous system, efferent parasympathetic nerve signals are
carried from the central nervous system to their targets by a system of two
neurons. The first neuron in this pathway is referred to as the preganglionic or
presynaptic neuron. Its cell body sits in the central nervous system and its axon
usually extends to synapse with the dendrites of a postganglionic neuron
somewhere else in the body. The axons of presynaptic parasympathetic neurons are
usually long, extending from the CNS into a ganglion that is either very close to or
embedded in their target organ. As a result, the postsynaptic parasympathetic
nerve fibers are very short.
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Disorders of the Nervous System
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neurological speech are
and mental frequently
problems.Ther impaired.
e are many Contractures
causes of the limbs
including birth may cause
injury, fixed
hypoxia, abnormalities.
hypoglycaemia Other
, jaundice and associated
infection. features
include
epilepsy,
visual
impairment,
squint,
reduced
hearing, and
behavioural
problems.
Motor A progressive degenerative Some forms of Motor
Neurone disease of the motor system motor neurone neurone
Disease occurring in middle age and disease are disease
causing muscle weakness and inherited. primarily
wasting. affects the
cells of the
anterior horn
of the spinal
cord, the
motor nuclei
in the
brainstem,
and the
corticospinal
fibres.
Multiple A chronic disease of the The myelin Multiple
Sclerosis nervous system that can affect sheaths Sclerosis (MS)
young and middle-aged adults. surrounding affects
The course of this illness nerves in the different parts
usually involves recurrent brain and of the brain
relapses followed by remissions, spinal cord are and spinal
but some patients experience a damaged, cord, resulting
chronic progressive course. which affects in typically
the function of scattered
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the nerves symptoms.
involved. These can
The underlying include:
cause of the Unsteady gait
nerve damage and shaky
remains movement of
unknown. the limbs
(ataxia)
Rapid
involuntary
movements of
the eyes
(nystagmus)
Defects in
speech
pronunciation
(dysarthria)
Spastic
weakness and
retrobulbar
neuritis (=
inflammation
of the optic
nerve)
Myalgic A condition characterized by Unknown. Extreme
Encephalomye extreme disabling fatigue that Often occurs disabling
litis (ME) has lasted for at least six as a sequel to fatigue that
months, is made worse by such viral has lasted for
physical or mental exertion, infections as at least six
does not resolve with bed rest, glandular months, is
and cannot be attributed to fever. made worse
other disorders. by physical or
mental
exertion, does
not resolve
with bed rest,
and cannot be
attributed to
other
disorders.
The fatigue is
accompanied
by at least
some of the
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following:
Muscle pain or
weakness
Poor co-
ordination
Joint pain
Sore throat
Slight fever
Painful lymph
nodes in the
neck and
armpits
Depression
Inability to
concentrate
General
malaise
Neuralgia Maybe due to A severe
previous burning or
attack of stabbing pain
shingles often
(Postherpetic following the
Neuralgia). course of a
nerve.
Neuritis A disease of Inflammation of the nerves,
the peripheral which may be painful.
nerves
showing the
pathological
changes of
inflammation.
The word
'neuritis' is
also used,
less precisely,
to refer to any
disease of the
peripheral
nerves,
usually
causing
weakness and
numbness.
Parkinson's Degenerative Associated with Tremor, rigidity and poverty of
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Disease disease a deficiency of spontaneous movements.
process the The commonest symptom is
(associated neurotransmitt tremor, which often affects one
with aging) er dopamine. hand, spreading first to the leg
that affects Also associated on the same side then to the
the basal with aging. other limbs. It is most profound
ganglia of the in resting limbs, interfering
brain. with such actions as holding a
cup.
The patient has an
expressionless face, an
unmodulated voice, an
increasing tendency to stoop,
and a shuffling walk.
Sciatica A common Usually caused Pain felt down the back and
condition by outer side of the thigh, leg, and
arising from degeneration of foot. The back is stiff and
compression an painful. There may be
of, or damage intervertebral numbness and weakness in the
to, a nerve or disc, which leg.
nerve root. protrudes
laterally to
compress a
lower lumbar or
an upper sacral
spinal nerve
root.The onset
may be
sudden,
brought on by
an awkward
lifting or
twisting
movement.
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Endocrine Disorders
The endocrine system is a network of glands that produce and release hormones
that help control many important body functions, including the body's ability to
change calories into energy that powers cells and organs. The endocrine system
influences how your heart beats, how your bones and tissues grow, even your
ability to make a baby. It plays a vital role in whether or not you develop diabetes,
thyroid disease, growth disorders, sexual dysfunction, and a host of other hormone-
related disorders.
Each gland of the endocrine system releases specific hormones into your
bloodstream. These hormones travel through your blood to other cells and help
control or coordinate many body processes.
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Endocrine disease that results when a gland produces too much or too little of an
endocrine hormone, called a hormone imbalance.
Endocrine disease due to the development of lesions (such as nodules or tumors) in
the endocrine system, which may or may not affect hormone levels.
The endocrine's feedback system helps control the balance of hormones in the
bloodstream. If your body has too much or too little of a certain hormone, the
feedback system signals the proper gland or glands to correct the problem. A
hormone imbalance may occur if this feedback system has trouble keeping the right
level of hormones in the bloodstream, or if your body doesn't clear them out of the
bloodstream properly.
Most endocrine tumors and nodules (lumps) are noncancerous. They usually do
not spread to other parts of the body. However, a tumor or nodule on the gland
may interfere with the gland's hormone production.
Adrenal insufficiency. The adrenal gland releases too little of the hormone
cortisol and sometimes, aldosterone. Symptoms include fatigue, stomach
upset, dehydration, and skin changes. Addison's disease is a type of adrenal
insufficiency.
Cushing's disease. Overproduction of a pituitary gland hormone leads to an
overactive adrenal gland. A similar condition called Cushing's syndrome may
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occur in people, particularly children, who take high doses of corticosteroid
medications.
Gigantism (acromegaly) and other growth hormone problems. If the
pituitary gland produces too much growth hormone, a child's bones and body
parts may grow abnormally fast. If growth hormone levels are too low, a child
can stop growing in height.
Hyperthyroidism. The thyroid gland produces too much thyroid hormone,
leading to weight loss, fast heart rate, sweating, and nervousness. The most
common cause for an overactive thyroid is an autoimmune disorder called
Grave's disease.
Hypothyroidism. The thyroid gland does not produce enough thyroid
hormone, leading to fatigue, constipation, dry skin, and depression. The
underactive gland can cause slowed development in children. Some types of
hypothyroidism are present at birth.
Hypopituitarism. The pituitary gland releases little or no hormones. It may
be caused by a number of different diseases. Women with this condition may
stop getting their periods.
Multiple endocrine neoplasia I and II (MEN I and MEN II). These rare,
genetic conditions are passed down through families. They cause tumors of
the parathyroid, adrenal, and thyroid glands, leading to overproduction of
hormones.
Polycystic ovary syndrome (PCOS). Overproduction of androgens
interfere with the development of eggs and their release from the female
ovaries. PCOS is a leading cause of infertility.
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Precocious puberty. Abnormally early puberty that occurs when glands tell
the body to release sex hormones too soon in life.
If you have an endocrine disorder, your doctor may refer you to a specialist called
an endocrinologist. An endocrinologist is specially trained in problems with the
endocrine system.
The symptoms of an endocrine disorder vary widely and depend on the specific
gland involved. However, most people with endocrine disease complain of fatigue
and weakness.
Blood and urine tests to check your hormone levels can help your doctors determine
if you have an endocrine disorder. Imaging tests may be done to help locate or
pinpoint a nodule or tumor.
The brain is made of three main parts: the forebrain, midbrain, and hindbrain. The
forebrain consists of the cerebrum, thalamus, and hypothalamus (part of the limbic
system). The midbrain consists of the tectum and tegmentum. The hindbrain is
made of the cerebellum, pons and medulla. Often the midbrain, pons, and medulla
are referred to together as the brainstem.
The Cerebrum: The cerebrum or cortex is the largest part of the human
brain, associated with higher brain function such as thought and action. The
cerebral cortex is divided into four sections, called "lobes": the frontal lobe,
parietal lobe, occipital lobe, and temporal lobe. Here is a visual
representation of the cortex:
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What do each of these lobes do?
Note: that the cerebral cortex is highly wrinkled. Essentially this makes the
brain more efficient, because it can increase the surface area of the brain and
the amount of neurons within it. We will discuss the relevance of the degree
of cortical folding (or gyrencephalization) later. (Go here for more information
about cortical folding)
A deep furrow divides the cerebrum into two halves, known as the left and
right hemispheres. The two hemispheres look mostly symmetrical yet it has
been shown that each side functions slightly different than the other.
Sometimes the right hemisphere is associated with creativity and the left
hemispheres is associated with logic abilities. The corpus callosum is a
bundle of axons which connects these two hemispheres.
Nerve cells make up the gray surface of the cerebrum which is a little thicker
than your thumb. White nerve fibers underneath carry signals between the
nerve cells and other parts of the brain and body.
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a more detailed look at evolution of brain structures and intelligence: "Ask
Brain Stem: Underneath the limbic system is the brain stem. This structure is
responsible for basic vital life functions such as breathing, heartbeat, and blood
pressure. Scientists say that this is the "simplest" part of human brains because
animals' entire brains, such as reptiles (who appear early on the evolutionary scale)
resemble our brain stem. Look at a good example of this here.
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sensory system (except olfaction) synapse here as the last relay site before
the information reaches the cerebral cortex.
Hypothalamus- part of the diencephalon, ventral to the thalamus. The
structure is involved in functions including homeostasis, emotion, thirst,
hunger, circadian rhythms, and control of the autonomic nervous system. In
addition, it controls the pituitary.
Amygdala- part of the telencephalon, located in the temporal lobe; involved
in memory, emotion, and fear. The amygdala is both large and just beneath
the surface of the front, medial part of the temporal lobe where it causes the
bulge on the surface called the uncus. This is a component of the limbic
system.
DNA
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The two DNA strands are termed
polynucleotides since they are
composed of simpler monomer units called nucleotides. Each nucleotide is
composed of one of four nitrogen-containing nucleobaseseither cytosine (C),
guanine (G), adenine (A), or thymine (T)and a sugar called deoxyribose and a
phosphate group. The nucleotides are joined to one another in a chain by covalent
bonds between the sugar of one nucleotide and the phosphate of the next, resulting
in an alternating sugar-phosphate backbone. The nitrogenous bases of the two
separate polynucleotide strands are bound together (according to base pairing rules
(A with T, and C with G) with hydrogen bonds to make double-stranded DNA. The
total amount of related DNA base pairs on Earth is estimated at 5.0 x 1037 and
weighs 50 billion tonnes. In comparison, the total mass of the biosphere has been
estimated to be as much as 4 trillion tons of carbon (TtC).
DNA stores biological information. The DNA backbone is resistant to cleavage, and
both strands of the double-stranded structure store the same biological information.
This information is replicated as and when the two strands separate. A large part of
DNA (more than 98% for humans) is non-coding, meaning that these sections do not
serve as patterns for protein sequences.
The two strands of DNA run in opposite directions to each other and are thus
antiparallel. Attached to each sugar is one of four types of nucleobases (informally,
bases). It is the sequence of these four nucleobases along the backbone that
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encodes biological information. RNA strands are created using DNA strands as a
template in a process called transcription. Under the genetic code, these RNA
strands are translated to specify the sequence of amino acids within proteins in a
process called translation.
Within eukaryotic cells, DNA is organized into long structures called chromosomes.
During cell division these chromosomes are duplicated in the process of DNA
replication, providing each cell its own complete set of chromosomes. Eukaryotic
organisms (animals, plants, fungi, and protists) store most of their DNA inside the
cell nucleus and some of their DNA in organelles, such as mitochondria or
chloroplasts. In contrast, prokaryotes (bacteria and archaea) store their DNA only in
the cytoplasm. Within the eukaryotic chromosomes, chromatin proteins such as
histones compact and organize DNA. These compact structures guide the
interactions between DNA and other proteins, helping control which parts of the
DNA are transcribed.
DNA was first isolated by Friedrich Miescher in 1869. Its molecular structure was
identified by James Watson and Francis Crick in 1953, whose model-building
efforts were guided by X-ray diffraction data acquired by Rosalind Franklin. DNA is
used by researchers as a molecular tool to explore physical laws and theories, such
as the ergodic theorem and the theory of elasticity. The unique material properties
of DNA have made it an attractive molecule for material scientists and engineers
interested in micro- and nano-fabrication. Among notable advances in this field are
DNA origami and DNA-based hybrid materials.
Supercoiling
DNA can be twisted like a rope in a process called DNA supercoiling. With DNA in its
"relaxed" state, a strand usually circles the axis of the double helix once every 10.4
base pairs, but if the DNA is twisted the strands become more tightly or more
loosely wound. If the DNA is twisted in the direction of the helix, this is positive
supercoiling, and the bases are held more tightly together. If they are twisted in the
opposite direction, this is negative supercoiling, and the bases come apart more
easily. In nature, most DNA has slight negative supercoiling that is introduced by
enzymes called topoisomerases. These enzymes are also needed to relieve the
twisting stresses introduced into DNA strands during processes such as transcription
and DNA replication.
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Chromosomes
During most of the duration of the cell cycle, a chromosome consists of one long
double-helix DNA molecule (with associated proteins). During S phase, the
chromosome gets replicated, resulting in an X-shaped structure called a metaphase
chromosome. Both the original and the newly copied DNA are now called
chromatids. The two "sister" chromatids are joined together at a protein junction
called a centromere (forming the X-shaped structure).
Chromosomes are normally visible under a light microscope only when the cell is
undergoing mitosis (cell division). Even then, the full chromosome containing both
joined sister chromatids becomes visible only during a sequence of mitosis known
as metaphase (when chromosomes align together, attached to the mitotic spindle
and prepare to divide).[1] This DNA and its associated proteins and macromolecules
is collectively known as chromatin, which is further packaged along with its
associated molecules into a discrete structure called a nucleosome. Chromatin is
present in most cells, with a few exceptions, for example, red blood cells. Occurring
only in the nucleus of eukaryotic cells, chromatin composes the vast majority of all
DNA, except for a small amount inherited maternally, which is found in
mitochondria.
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Diagram of a replicated and
condensed metaphase
eukaryotic chromosome.
(1) Chromatid one
of the two identical parts of the chromosome
after S phase.
(2) Centromere the
point where the two
chromatids touch.
(3) Short arm.
(4) Long arm.
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In prokaryotes (see nucleoids) and viruses, the DNA is often densely packed and
organized: in the case of archaea, by homologs to eukaryotic histones, and in the
case of bacteria, by histone-like proteins. Small circular genomes called plasmids
are often found in bacteria and also in mitochondria and chloroplasts, reflecting
their bacterial origins.
Some authors, as in this article, use the term chromosome in a wider sense, to refer
to the individualized portions of chromatin in cells, either visible or not under light
microscopy. However, others use the concept in a narrower sense, to refer to the
individualized portions of chromatin during cell division, visible under light
microscopy due to high condensation.
Gene
A gene is a locus (or region) of DNA which is made up of nucleotides and is the
molecular unit of heredity. The transmission of genes to an organism's offspring is
the basis of the inheritance of phenotypic traits. Most biological traits are under the
influence of polygenes (many different genes) as well as geneenvironment
interactions. Some genetic traits are instantly visible, such as eye colour or number
of limbs, and some are not, such as blood type, risk for specific diseases, or the
thousands of basic biochemical processes that comprise life.
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DNA Transcription, Replication, Translation
The stretch of DNA transcribed into an RNA molecule is called a transcription unit and
encodes at least one gene. If the gene encodes a protein, the transcription produces
messenger RNA (mRNA); the mRNA in turn serves as a template for the protein's
synthesis through translation. Alternatively, the transcribed gene may encode for either
non-coding RNA (such as microRNA), ribosomal RNA (rRNA), transfer RNA (tRNA), or
other enzymatic RNA molecules called ribozymes. Overall, RNA helps synthesize,
regulate, and process proteins; it therefore plays a fundamental role in performing
functions within a cell.
In virology, the term may also be used when referring to mRNA synthesis from an
RNA molecule (i.e., RNA replication). For instance, the genome of a negative-sense
single-stranded RNA (ssRNA -) virus may be template for a positive-sense single-
stranded RNA (ssRNA +). This is because the positive-sense strand contains the
information needed to translate the viral proteins for viral replication afterwards.
This process is catalyzed by a viral RNA replicase.
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In molecular biology, DNA replication is the biological process of producing
two identical replicas of DNA from one original DNA molecule. This process occurs in
all living organisms and is the basis for biological inheritance. DNA is made up of a
double helix of two complementary strands. During replication, these strands are
separated. Each strand of the original DNA molecule then serves as a template for
the production of its counterpart, a process referred to as semiconservative
replication. Cellular proofreading and error-checking mechanisms ensure near
perfect fidelity for DNA replication.
DNA replication can also be performed in vitro (artificially, outside a cell). DNA
polymerases isolated from cells and artificial DNA primers can be used to initiate
DNA synthesis at known sequences in a template DNA molecule. The polymerase
chain reaction (PCR), a common laboratory technique, cyclically applies such
artificial synthesis to amplify a specific target DNA fragment from a pool of DNA.
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In molecular biology and genetics, Translation is the process in which
ribosomes in a cell's cytoplasm create proteins, following transcription of DNA to
RNA in the cell's nucleus. The entire process is a part of gene expression.
Initiation: The ribosome assembles around the target mRNA. The first tRNA
is attached at the start codon.
Elongation: The tRNA transfers an amino acid to the tRNA corresponding to
the next codon. The ribosome then moves (translocates) to the next mRNA
codon to continue the process, creating an amino acid chain.
Termination: When a stop codon is reached, the ribosome releases the
polypeptide.
In bacteria, translation occurs in the cytoplasm, where the large and small
subunits of the ribosome bind to the mRNA. In eukaryotes, translation occurs in
the cytosol or across the membrane of the endoplasmic reticulum in a process
called vectorial synthesis. In many instances, the entire ribosome/mRNA
complex binds to the outer membrane of the rough endoplasmic reticulum (ER);
the newly created polypeptide is stored inside the ER for later vesicle transport
and secretion outside of the cell.
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Many types of transcribed RNA, such as transfer RNA, ribosomal RNA, and small
nuclear RNA, do not undergo translation into proteins.
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Karyotype
Karyotype is a
test to
identify and
evaluate the
size, shape, and
number
of
chromosomes
in a
sample of
body cells. Extra
or missing
Test Overview
Karyotype is a test to identify and evaluate the size, shape, and number of
chromosomes in a sample of body cells. Extra or missing chromosomes, or
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abnormal positions of chromosome pieces, can cause problems with a person's
growth, development, and body functions.
Why It Is Done?
Karyotyping is done to:
Find out whether the chromosomes of an adult have a change that can be
passed on to a child.
Find out whether a chromosome defect is preventing a woman from
becoming pregnant or is causing miscarriages.
Find out whether a chromosome defect is present in a fetus. Karyotyping also
may be done to find out whether chromosomal problems may have caused a
fetus to be stillborn.
Find out the cause of a baby's birth defects or disability.
Help determine the appropriate treatment for some types of cancer.
Identify the sex of a person by checking for the presence of the Y
chromosome. This may be done when a newborn's sex is not clear.
Results:
Karyotype is a test to identify and evaluate the size, shape, and number of
chromosomes in a sample of body cells.
Normal:
There are 46 chromosomes that can be grouped as 22 matching pairs and 1
pair of sex chromosomes (XX for a female and XY for a male).
The size, shape, and structure are normal for each chromosome.
Abnormal:
There are more than or fewer than 46 chromosomes.
The shape or size of one or more chromosomes is abnormal.
A chromosome pair may be broken or incorrectly separated.
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A sample taken by gently swabbing the tissues inside the cheek (called a buccal
swab) sometimes is used for a karyotype test. But results from buccal swabbing are
less accurate than other types of karyotype tests.
Sometimes a karyotype test is combined with other genetic tests to provide more
specific information about genetic problems. To learn more, see the topic Genetic
Test.
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Illustration of DNA electrophoresis equipment
used to separate DNA fragments by size. A gel
sits within a tank of buffer. The DNA samples
are placed in wells at one end of the gel and an electrical current passed across the gel. The
negatively-charged DNA moves towards the postive electrode. Image credit: Genome Research Limited
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