TERMINOLOGY
OF THE PLANT UNIT:
1. VASCULAR VS
NON-VASCULAR PLANTS
NON-VASCULAR PLANTS:
Ø
Lack
vascular tissue (xylem and phloem)
Ø
need to live in moist places because this brings
moisture to every part of the plant without needing or using a transport
system.
Ø
Diffusion
is enough to take the water and dissolved substances to all parts of the plant.
Ø
This
reliance on diffusion for transport limits their size.
Ø
Very
simple plants that lack true roots, stems and leaves.
Ø
Moss,
liverwort and hornwort.
VASCULAR PLANTS:
Ø
Have
vascular tissue to transport water and dissolved nutrients to every part of the
plant, enabling it to grow tall and in places that are drier.
Ø
Have
true roots, stems and leaves.
Ø
The
early forms are ferns, horsetail and then came gymnosperms and angiosperms.
2. GYMNOSPERM VS
ANGIOSPERM
GYMNOSPERM:
Ø
have naked seeds or seeds without a seed coat. The seed
is a sexually reproduced structure with a diploid zygote that developed into an
embryo surrounded by nourishment. The seed is the result of the fertilization
of an egg by sperm (pollen).
Ø
Male
cones produce pollen. Pollination occurs. The seed develops in the female cone.
The seeds are dispersed by the wind and germinate if they find favourable
conditions.
ANGIOSPERM:
Ø
seed covered by a testa, and the ovary of the flower
that often develops into a fruit.
Ø
Flowers
contain male and female parts that produce sperm (pollen) and ova. Pollination occurs.
The seed develops in the ovary and is dispersed by various means to germinate
if it finds favourable conditions.
Ø
Divided
into monocotyledons and dicotyledons: see table page 523 of textbook.
4. STRUCTURE OF
XYLEM AND PHLOEM:
These
vascular elements are found in roots, stems and leaves, and are arranged
differently in each.
XYLEM:
Ø
Carry
water from root to leaf, where it is used and transpired (lost through pores
called stomata).
Ø
Long
hollow tubes of nonliving cell walls.
Ø
Two
kinds: tracheids and vessel elements.
Ø
They
die as they mature.
Ø
Gymnosperms
only have tracheids and angiosperms have both.
Ø
Water
passes through pits in the adjacent end walls.
Ø
Xylem
also provides support and strength to stems.
Ø
Refer
p135 course pack
PHLOEM:
Ø
Translocates
of sugars in a solution down from the leaves or up from the roots.
Ø
Phloem
is made up of a companion cell and sieve tube element with sieve tube plates
between the elements.
Ø
The
cells are alive and translocation is an active process.
Ø
Plant
hormones are also carried in the phloem.
Ø
Refer
p135 course pack.
5. TROPISMS AND
NASTIC MOVEMENTS:
A tropism is a directional growth
response to an unequal stimulation from the environment. It controls the growth
of the plant by affecting the production of plant hormones. The plant grows
toward (positive tropism) or away from the stimulus (negative tropism) and this
is achieved by affecting the number and size of cells in different parts of the
plant. The three tropisms are
Ø
phototropism
(response to light),
Ø
gravitropism
(response to gravity)
Ø
thigmotropism (response to touch shown by vining plants
that grow toward an object touching them so they can coil around the object).
Nastic movements are responses
to stimuli that are not directional. The plant does not grow in a particular
direction. Instead, it may alter the turgor pressure in cells in a way that
moves the plant temporarily away from a stimulus.
SEEDS
AND EMBRYOS
NOTES:
1.
A
seed is a dormant (alive but not growing) package
containing an embryo produced through sexual reproduction and food for that
embryo to grow during the germination process.
2.
A
testa
is a tough, waterproof covering around an angiosperm seed. It protects the
embryo, decreasing its exposure to oxygen and water.
3.
The micropyle is a channel for water and oxygen to the
embryo. It conditions are right, the seed will swell, break the testa in the
case of a dicot seed, and the embryo will begin to metabolise the stored
nutrients of the cotyledons and endosperm (monocot) to grow toward light and
water. It is important not to flood a seed with water as the required oxygen
will not enter the micropyle and the embryo will die.
4.
The
endosperm
is the tissue around the monocot embryo and is made of starch, a food source
for the embryo.
5.
The
cotyledons are
“seed leaves” that store lipid and protein as a food source. The cotyledons
will go green on contact with sunlight, and provides food (stored and by
photosynthesis) until the first true foliage leaves can photosynthesise.
6.
The
radicle
is the lowest part of the embryo below the hypocotyl and becomes the root. It
grows down in response to gravity.
7.
The
epicotyl
is the part of the embryo above the cotyledons and is the first meristem
(rapidly growing tissue) of the shoot.
8.
The
hypocotyl
is the tissue below the cotyledons and becomes the lower stem.
9.
The
plumule
is the leaves at the tip of the epicotyl. In the monocot seed the plumule is
protected by the coleoptile, a protective sheath.
REQUIREMENTS FOR GERMINATION AND THE
EFFECTS OF ENVIRONMENTAL FACTORS ON SEED GERMINATION
DESIGN YOUR OWN LAB
MATERIALS
Petri dishes
Paper toweling
Radish seeds
Light, water, temp regulation (heat, fridge), salt and any other environmental chemicals
PURPOSE
Design an experiment that analyses the effect of certain environmental conditions on the germination of radish seeds.
Write a hypothesis, a procedure, set up the experiment, collect data, write up the results, discuss the results and write a conclusion.
SEEDS AND EMBRYOS
PURPOSE
To examine the structure of
representative angiosperm seeds and compare a
monocotyledon with a dicotyledon seed.
·
A) Define the terms cotyledon, testa,
micropyle, endosperm, radicle, coleoptile, plumule, epicotyl, hypocotyl.
·
B) What mature plant structures do the
epicotyl, plumule, the hypocotyls and radicle become?
PROCEDURE
A. DICOTYLEDON SEED
1. Obtain a soaked dicot
seed.
2. Examine it. Note that it
is covered with a coat called the testa.
3. Note the concave side has
a flattened area called the hilum. It is the point where the
seed was attached
to the ovary.
4. Look for a tiny pore below
the hilum, called the micropyle. Water is taken up here for
germination. However,
flooding the seed with water will prevent enough oxygen from
getting to the
seed through this pore and result in rotting.
5. Draw and label the external structure of the
dicot seed.
·
D) What is the purpose of the seed coat?
·
E)
Why is the seed soaked in water before dissecting?
6. Gently separate the two
cotyledons to expose the embryo between.
7. Examine the embryo. Locate
the true foliage leaves attached to the epicotyl. The
hypocotyl is
attached to the cotyledons and the radicle extends down from the
hypocotyl.
8. Draw and label the opened seed and embryo.
·
F) Explain why this is a dicotyledon seed.
B. MONOCOTYLEDON SEED
1. Obtain a soaked corn
kernel or seed.
2. Observe the wide and narrow
ends, and locate the scarred area where the seed was
attached to the
cob.
3. Cut
the seed open lengthwise.
4. Identify the epicotyl
(plumule), hypocotyl, and radicle.
5. Add a drop of iodine to
the cut side.
·
G) Which part of the seed turned black?
·
H) What is iodine a test for?
6. Draw the exposed surface and label it.
MOVEMENT OF WATER IN XYLEM
Water is taken up by the root
epidermis and root hairs by osmosis; it enters the xylem in the root; diffuses from
the stem to all parts of the plant; enters the numerous veins in the leaf, and
about 99% of it is lost by transpiration through pores called stomata in the
leaf.
There are theories about how
this happens:
1. ROOT PRESSURE
·
There is a higher
concentration of water in the soil, which causes it to enter the root via
osmosis.
·
This creates a
pressure that pushes the water up the stem
·
Minerals can move
by active transport into the roots, adding to the osmotic gradient for water.
·
Root pressure is
not a major factor in water transport.
2. CAPILLARY ACTION
·
This is the
observed ability of water to cling to the sides of a narrow tube due to
adhesive forces between water and tube (opposite polarities create attractive
forces). This accounts for some of the water movement against gravity.
3. COHESION -TENSION THEORY
·
Water is a polar
molecule in which the slightly positive H atom of one molecule and the slightly
negative O of another molecule are attracted to each other (the hydrogen bond).
This is the cohesive force that allows us to pour water.
·
A continual
column of water is thus created in the xylem that can withstand pressures up to
20 000kPa (tensile steel).
·
As a water molecule escapes from a stoma so another molecule is
pulled into the root to replace it – there are no air locks or breaks in this
cohesive and high-tension column.
THE TRANSPORT IN
PHLOEM:
TRANSLOCATION OF
NUTRIENTS UP AND DOWN THE PLANT
THE PRESSURE-FLOW OR MASS-FLOW THEORY
·
In the upper part
of the plant, near the leaves, sucrose is actively pumped into the phloem.
·
As a result of
the high sugars here, water moves by osmosis into the phloem from the xylem
nearby.
·
This then moves
as a mass or bulk movement down the stems: the water entering the phloem creates a
water pressure pushing the nutrients along.
·
In the roots,
sucrose is actively pumped out of the phloem for storage as starch.
·
Osmosis causes
water now to move out of the phloem, and back into the xylem.
·
In the spring, in
plants like the maple, this stored starch in the roots is broken down to
sucrose and is pumped into the phloem. The mass movement is the same, but will
happen up to the stems in order to provide sugars for new bud and leaf growth.
FERMENTATION
A substrate (usually glucose)
is broken down by glycolysis alone. Therefore no oxygen is used for releasing
the substrate’s energy (anaerobic respiration).
Glycolysis ends with the
production of end products like lactic acid, acetic acid, alcohol, carbon
dioxide and hydrogen gas.
a.Examples of Lactic acid production.
·
anaerobic
respiration in animals e.g humans will produce lactic acid during high
intensity exercise. Aerobic respiration is shut down in this kind of exercise
because insufficient amounts of oxygen can get to the exercising muscle.
·
anaerobic
bacteria. For example, Lactobacillus acidophilus found in yoghurt, and the many
bacteria used to make cheeses, break down lactose to glucose and galactose,
which enters glycolysis, and lactic acid is the end product produced.
b. Examples of Alcohol (ethanol)
production
c. Examples of Carbon dioxide
production
Just by the way:
PHOTOSYNTHESIS
//is
an energy acquiring pathway occurring in autotrophic plants. It consists of two parts:
·
The
light dependent pathway or reaction: traps the sunlight’s energy and converts it to chemical energy
ATP and NADPH.
·
The
light independent pathway or reaction: takes the chemical energy and uses it to
make glucose.
Do plants respire?
PHOTOPHOSPHORYLATION
//The
phosphorylation of ATP from ADP in the light dependent pathway of
photosynthesis.
A. THE LIGHT DEPENDENT PATHWAY
At the end of this pathway,
NADPH and ATP have been formed and will be passed into the stroma of the
chloroplasts for the second pathway.
b. THE LIGHT INDEPENDENT PATHWAY:
1.
Phase
one: Carbon
Fixation:
3CO2 + 3RuBp à 6 PGA
2. Phase 2:
Reduction Reaction
The 6PGA + 6ATP à 6 molecules of
1,3 biphosphoglycerate
6 molecules of 1,3 biphosphoglycerate + 6NADPH à
6glyceraldehyde -3-phosphate (G3P)
3. Phase 3: RuBp
regeneration
(two 3C à 6C compound)
Overall process:
12H2O + 6CO2 + SUNLIGHT à 6O2
+ C6H12O6 + 6H2O
DEFINITIONS FOR
CELLULAR TRANSPORT
THE CELL MEMBRANE
Movement
across the membrane can occur in a number of ways:
PROTEINS IN THE CELL MEMBRANE
THE HUMAN KARYOTYPE
The karyotype is a photograph of the chromosomes in the nucleus of a somatic cell. Blood or skin cells are grown in a glass container. A special solution stops cell division in meiotic metaphase where they are clear to see. The chromosomes are separated, stained and photographed. Enlarged images are cut out and arranged in pairs according to size, shape and appearance. Special staining reveals the unique banding patterns of each chromosome.
Mistakes can occur during meiosis e.g a failure to separate: nondisjunction – trisomy or triploidy results. Embryos with too many or too few autosomes rarely survive (miscarriage). Down Syndrome is trisomy 21. It is a group of disorders that occur together. There is mild to moderate mental impairment and a large, thick tongue, short and stocky build. They are more susceptible to infections and often have abnormalities in vital organs. 40% have heart defects. Greater chance of developing senility. The condition is often associated with the age of the mother.
Chromosomes can also mutate by a portion undergoing an inversion: chromosomal inversion, deletion, duplication and translocation.
In deletion, a part of the chromosome is lost. Viruses, irradiationand chemicals can cause parts of the chromosome to break off. The loss is actual genes. If part of chromosome 5 is lost, a child is mentally handicapped, has an abnormal larynx that makes the child cry like a cat (called cri-du-chat)
In duplication, a gene sequence is repeated one or more times within one or several chromosomes. Too many repeats affect the functioning of the gene. In Fragile X syndrome a duplication occurs in chromosome X (700 repeats of the same sequence).
In Inversion, a gene segment becomes free and then reinserts in the reverse order.
In translocation, part of one chromosome changes places with another part of the same chromosome or with part of another nonhomologous chromosome. If part of chromosome 14 exchanges with part of chromosome 8, cancer can occur.
Mistakes can occur during DNA replication. There are different types: base pair substitution occurs when one base pair is replaced by another; and a frameshift mutation which occurs when one or more base pairs are added or deleted. The number of these that are passed on is small because there are special enzymes that “proofread” the new strand of DNA.
Mutations can cause cells to lose control of the cell division rate and grow abnormally. This leads to cancer.
External influences can cause mutation, like radiation and exposure to chemicals like Agent Orange or mustard gas. UV light causes the hydrogen bonds to break in base pairs on DNA, and these then fuse to 2 adjacent bases. This results in abnormal replication and cell division.
MEIOSIS
INTERPHASE
MEIOSIS ONE
Prophase One
Metaphase one
Anaphase one
Telophase one
Cytokinesis separates the cell into two hapoid cells
MEIOSIS TWO:
Both of the above two cells
will go through this:
Prophase Two
Metaphase Two
Anaphase Two
Telophase Two
Cytokinesis
CHROMOSOMES
You have a pair of each of the 23
chromosomes, because your mother provides you with a set from 1-23 and so does
your father. So you have 23 pairs, or 46 chromosomes. These pairs are called HOMOLOGOUS PAIRS. For example, in order
to be a female you need an X sex chromosome from your mother and one from your
father (XX = female). If you are male, you received an X sex chromosome from
your mother, and a Y chromosome from your father (XY = male).
When a cell has 46 chromosomes,
we say it is diploid. When a cell
has only one of each of the 23 chromosomes and therefore only 23 chromosomes,
we say it is haploid. All cells in
your body (somatic cells) have 46 chromosomes. Only ova (eggs) and sperm are
haploid, because they must join together to form a zygote (the first cell of the embryo) with 46 chromosomes. Ova and
sperm are called gametes. Gametes
are produced in specialized tissue called the gonads – the ovary (ova) or the testis (sperm). The gametes are
produced by a reduction division called
meiosis.
GENETICS
GREGOR MENDEL (1822-1884)
An Austrian monk who used a series of
experiments as the basis for his theories of genetic inheritance.
He used an ideal organism, the domestic pea plant, to study genetics. It is ideal because:
(e.g. height is continuous, 2 colours are discontinuous)
· First, he had to create purebreds:
//organisms descended from ancestors of a distinct type.
He did this through selective breeding: selectively breeding a single trait e.g. tall with tall, over and over from generation to generation, until all offspring are tall. Any progeny that were not tall would be discarded in the next breeding. The plants would eventually be ‘true breeding’.
·
Secondly, he experimented on Monohybrid crosses:
SEE HOW TO
PUNNETT SQUARES
A punnett square is a way of organizing all the
possible combinations of alleles. It is used to calculate the probability of
inheriting a particular trait. All the possible gametes for 1 parent are listed
across the top and all the possible gametes for the other parent are listed
down the side of the square. Copying the row and column gamete into the squares
gives all the possible crosses. The genotype and phenotype possibilities and the ratios are shown.
THE LAW OF PROBABILITY
This law forms the basis for solving genetic problems.
The 2 alleles each parent has represents probability.
The probability of getting a particular combination of alleles in a zygote
depends on the genetic makeup of the parents. What is actually inherited
happens entirely by chance.
·
Next, Mendel allowed the F1
generation to self-pollinate, producing the F2 generation. He found
that 3 out of 4 plants expressed the dominant trait, and 1 out of 4 expressed
the recessive trait. This 3:1 ratio is called the
Mendelian Ratio.
SEE
HOW TO
Using the Punnett squares on an f1
x f1 cross:
T
t
|
T TT |
Tt |
|
t Tt |
tt |
DO
PAGE 48 – 49 course pack
From this Mendel realised that:
a. Each F1 parent must have 2 hereditary factors.
b. These factors must separate in the parent. Only one factor from each parent is given to the offspring.
c. The offspring inherit one factor from each parent. If the dominant factor was inherited from either parent it would be expressed
d. The recessive factor is only expressed if it is the only factor present.
This makes up his First Law of Heredity: The
Law of Segregation: //inherited traits are determined by pairs of
factors. These factors separate, so there is only one present in the gamete.
Today
· We call these ‘factors’ genes: A DNA sequence coding for a single polypeptide that governs the expression of a particular trait.
· Genes occur in alternate forms, called alleles: one of a possible number of states of genes, distinguished from other alleles by their (phenotype) actual expression. Mendel was seeing 2 alleles – one dominant and one recessive. These genes occupy specific places on chromosomes called loci.
· Genes are found on chromosomes: each chromosome is a DNA molecule complexed with proteins to form a thread-like structure containing genetic information. They are seen during division. Chromatin is the resting form.
· Chromosomes are paired, which means that we get two of each chromosome type. They both have the same gene sequences but the alleles can be different. These are called homologous pairs. We get one from each parent.
· If the alleles for a gene on the homologous pairs are the same, we say the individual is homozygous for that trait. If the alleles are different, we say the individual is heterozygous for that trait. In this case, the dominant trait will be expressed.
· The genotype is the genetic constitution of an organism i.e. the full complement of all genetic information they have.
· The phenotype is the observable expression of the genetic information.
SEE SIMPLE DOMINANT/RECESSIVE TRAITS IN HUMANS
DO PAGE 50 – 51 COURSE PACK
DO P52 OF COURSE PACK
A simple dominant trait is one for which there are only 2 possible alleles – dominant and recessive. Examples of this are
Dominant: widow’s peak hairline; tongue rolling; straight thumb; (freckles; long eyelashes); unattached earlobes.
DETERMINING THE
GENOTYPE
This is done by performing a test cross.
This involves crossing an individual of unknown genotype with a known homozygous recessive individual. The offspring will has certain phenotypes that will allow you to determine whether the unknown parent is homozygous or heterozygous. It is also helpful for determining how many alleles govern a single trait.
EXAMPLE:
A normal size Alaskan Malamute dog may be homozygous for size or heterozygous. To find out, it is crossed with a dwarf-size dog:
d d
|
D Dd |
Dd |
|
D Dd |
Dd |
Offspring are all dominant . Therefore the dog must have been homozygous
d d
|
D Dd |
Dd |
|
d dd |
dd |
Half are dominant, half are recessive. Therefore the dog must have been heterozygous.
Two pieces of evidence can be used to determine an autosomal dominant allele: if the allele is expressed in heterozygotes and homozygotes, and secondly, if one parent is heterozygous and the other homozygous recessive for the allele, then 50% of the offspring will have the trait.
MENDEL’S SECOND
EXPERIMENT
A DIHYBRID CROSS
Monohybrid crosses investigate one trait at a time. But the next step was to find out how multiple traits are inherited. Did the inheritance of one characteristic influence the inheritance of another trait?
Mendel selectively bred pea plants until the offspring always had round, yellow seeds i.e. homozygous dominant for both traits. He bred them with pure strain wrinkle, green seeds. He then performed a DIHYBRID CROSS. He found the f1 generation all had round, yellow seeds. The offspring were all heterozygous for the 2 traits and round (R) and yellow (Y) were dominant. This didn’t really tell him if one was influencing the other. So he crossed individuals of the f1 generation.
REFER TO
The phenotypic outcome was 9:3:3:1. By looking at the genotype it was clear that there was no indication that the inheritance of one trait influenced that of another trait – and therefore the inheritance of one trait was independent of that of another trait:
A ratio of 9:3:3:1 could be
explained if the alleles from one trait were inherited independently of
another. This led to his second law: the inheritance of alleles for one trait
does not affect the inheritance of alleles for another trait. This means that
offspring may have new combinations of alleles that are not present in either
parent.
DETERMINING THE GENOTYPE OF AN
INDIVIDUAL FOR 2 TRAITS: THE TEST CROSS
Cross an individual that shows the dominant phenotype for both traits with an individual that is homozygous recessive for the same two traits.
P = purple flower
p = white flower
r = wrinkled pea shape
R = round pea shape
Unknown individual homozygous individual: pr
|
PR |
PpRr |
|
Pr |
Pprr |
|
pR |
ppRr |
|
pr |
prpr |
Outcome: 1 purple flower with round peas; one purple flower with wrinkled peas; one white flower with round peas; one white flower with wrinkled peas
i.e. 1:1:1:1
Complete p 141 of textbook numbers 1-9
COMPLETE COURSE PACK P53, 54, 55
Some traits do not follow Mendel’s laws of inheritance.
In some cases, neither allele is dominant. The traits then blend if they are both present. In incomplete dominance a heterozygote is a mixture. An example is the snapdragon, which is either red or white, but a heterozygous individual will be pink.
When there is incomplete dominance, the letters are both capital e.g for the snapdragon: R and R’, and so a pink will be RR’. In the f2 generation of two pink f1 generations there will be 25% red, 50% pink and 25% white: 1:2:1. This is different from the 3:1 of Mendel.
In humans an example of incomplete dominance is voice pitch: low and high occur in men who are homozygous, whilst intermediate pitch occurs in heterozygotes.
Both alleles are dominant, and both are expressed in the heterozygous individual. For example feather colour in chickens is governed by two dominant alleles. Black and white (B) and (W) are homozygous. The heterozygote would be checkered black and white. In co-dominance, the phenotype shows both characteristics, not a mixture as occurs with incomplete dominance.
Many genes have many alleles, not just two. Blood groups in humans is an example. The 3 alleles coding for the glycoproteins on the surface of RBCs are type A (IA) , type B (IB) and a recessive third type which is neither A nor B and which we call type 0 (i). IA and IB are codominant, and are dominant over i.
|
PHENOTYPE (BLOOD TYPE) |
GENOTYPES |
|
A B AB O |
IAIA OR IAi IBIB OR IBi IAIB ii |
Skin colour is another example.
In fact it has been found that Mendel was not intirely correct in his law of independent inheritance – that the inheritance of one allele can affect the inheritance of a second allele, or affect how and when a trait is expressed.
REFER LAB ON BLOOD GROUPS
COMPLETE PAGE 64 OF COURSE PACK
WORK THROUGH P58-64 OF COURSE PACK
COMPLETE P65 OF COURSE PACK
Refer the textbook sample problems on blood groups and on
the coat colour of rabbits (p145). Complete textbook p146-9 problems.
The combined work of Gregor Mendel, Walter Sutton and Theodor Boveri formed the basis of the Chromosome Theory of Inheritance, which states that genes are located on chromosomes and chromosomes provide the basis for the segregation and independent assortment of genes.
The Y has 1% of the genes found on the X . Thought to have arisen through an inversion mutation.
Chromosomes are not always important in determining sex. Reptile sex is determined by temperature – 23 to 27 celcius = male; any cooler or warmer it will be female. The temperature affects genes which can turn an embryo into a male or female.
Some traits that are passed on are carried on the sex chromosome. This is called Sex-Linked Inheritance. A gene on the X chromosome is called X-linked, and one on the Y chromosome is called Y-linked. Most known sex-linked traits are X-linked.
Examples of X-linked traits in humans are colour blindness and haemophilia. For a women to be colour-blind, she must inherit 2 recessive alleles. The genotype is written as X or Y with the allele in superscript. For example, red or white eyes in Drosophila is X-linked. So a white-eyed male would be XrY and a homozygous red eyed female would be XRXR. When doing punnett squares on sex linked inheritance, assume the trait is located on the X chromosome unless otherwise stated.
In females, one of the X chromosomes is inactivated. This inactivation is random and so different X chromosomes are active in different cells. The inactivated X chromosome is called the Barr body.
A tortoiseshell cat is an example of random X chromosome inactivation. This pattern only occurs in female cats. Each has a random distribution of orange and black patches. The gene for both these colours is on the X chromosome. A tortoiseshell is heterozygous for coat colour, so the colour that is expressed in a patch depends on which X is inactivated in those cells.
Many traits are controlled by more than one gene. The proteins that are synthesised in response to these genes work together to form a range of variation, or continuous variation. Continuous variation is variation among individuals in a population in which there is a gradient of phenotypes for one trait. In humans, height and skin colour are examples.
In corn, the range in ear length is continuous: A and B make the ear long; a and b make the ear short, and combinations make for different lengths:
AB Ab aB ab
|
AB AABB longest |
AABb long |
AaBB long |
AaBb medium |
|
Ab AABb long |
Aabb medium |
AaBb medium |
Aabb short |
|
aB AaBB long |
AaBb medium |
AaBB medium |
AaBb short |
|
ab AaBb medium |
Aabb short |
AaBb short |
Aabb shortest |
The longest and shortest are the most rare.
These are genes that modify the expression of a trait. For example there are only 2 eye colour genes – with or without melanin (brown or blue). Modifiers are thought to bring about the variation.
![]()
Male
Female Colour represents recessive and
dominant for a single trait.
Generations are indicated by roman numerals.
NB: The study of inheritance is restricted to the recessive and dominant nature of a particular trait. Half a square or circle coloured indicates a carrier (heterozygous). In humans usually only the phenotype is known and so the genotype has to be guessed.
COMPLETE P 148 OF TEXTBOOK NUMBER 8
Cloning is the production of identical copies of molecules, genes, cells or whole organisms. The copy is made vegetatively, not sexually.
To create Dolly, and egg cell was taken from one adult female sheep and the nucleus was removed. A nucleus from a mammary gland cell of an adult female was added. The egg cell was implanted into the uterus of a surrogate mother. This work was done by Ian Wilmut in 1997.
Cloning is used in agriculture to produce copies of high-quality crops. In medicine is used in medicine to produce identical strains of bacteria.
Genes are often cloned. Multiple copies of DNA is produced by inserting sections of DNA bacterial DNA using viral transduction. When the bacteria replicates, the DNA is also replicated/cloned. Insulin is manufactured in this way. The cloning vector is usually a virus or a plasmid (extrachromosomal DNA found in bacteria)
1. AUTOSOMAL RECESSIVE INHERITANCE DISEASE
There are many disorders.
Tay-Sachs: the brain and spinal chord begins to deteriorate at about 8 months. By 1yr the baby is blind, mentally handicapped, and have extreme lower motor neuron muscle atrophy. The condition is due to a lack of an enzyme in the lysosomes of the brain cells, so that certain sphingolipids are not are not broken down. The lipid builds up, destroying brain cells. Carriers have half the level of enzyme, and this can be tested as a way to identify carriers. The incidence is high among Central and Eastern Europe Ashkenazic jews.
Phenylketonuria (PKU): The enzyme to convert phenylalanine to tyrosine is absent or defective, and the products of abnormal breakdown of this amino acid damage the developing nervous system, leading to mental handicap. Babies appear normal and deteriorate as the amino acid builds. The only way to treat this is to avoid phenylalanine. Every baby is tested at birth.
Albinism is due to a lack of an enzyme to produce melanin, or the melanin lacks the ability to enter pigment cells.
2. CO-DOMINANT INHERITANCE DISEASE
Sickle cell anaemia is a defect in the haemoglobin. It consists of the haeme fraction and 4 polypeptide chains – two alpha and 2 beta. In this anaemia, one amino acid glutamic acid at a point on the beta chain is replaced by valine, resulting in abnormal sickle haemoglobin. The allele HbS indicates abnormal haemoglobin and the allele HbA indicates normal Hb. The abnormal Hb can pick up O2 but when it gives up the oxygen, the Hb changes shape and clumps with other Hb molecules in the RBC. The RBC becomes stiff and deformed, and crescent-shaped, causing life-threatening thrombi. There is constant pain and often premature death.
HbA HbS
|
HbA HbAHbA |
HbAHbS |
|
HbS HbSHbA |
HbSHbS |
Heterozygotes have the sickle cell trait, whilst homozygotes with the trait have sickle cell disease.
In some African regions almost half the population is heterozygous, because it confers an advantage against malaria. This is an example of the heterozygous advantage. They produce enough normal RBCs to meet their O2 needs, and enough sickle cells to reduce their susceptibility to infection.
3. AUTOSOMAL DOMINANT INHERITANCE DISEASE
Quite rare. Some are caused by rare mutations, whilst others only arise when after affected individuals pass the age of being able to have children. The usual situation is:
A a
|
a Aa |
aa |
|
a Aa |
aa |
50% are affected.
Progeria causes rapid aging. It does not run in families.
Huntington Disease results in rapid brain deterioration over about 15 years. Symptoms appear at about age 35, and begin with irritability, mild memory loss, and then involuntary arm and leg movements. Loss of co-ordination and ability to speak plus memory, eventually leading to death in the 40’s or 50’s.
4. INCOMPLETE DOMINANCE DISEASE
Familial Hypercholesterolaemia: a heterozygote has some symptoms. 50% of the LDL receptors on cells are defective and cannot bind to blood LDL, resulting in twice the normal blood LDL. Homozygous recessives don’t produce any receptors and have 6 times the normal LDL, causing heart attacks as early as 2 years.
5. X-LINKED RECESSIVE INHERITANCE DISEASE
Haemophilia A is carried by the female with one allele on the X chromosome, and they have almost normal clotting time. If a female has 2 alleles she can have the condition. Boys inherit the condition only from their mothers, since they only get their X chromosome from their mothers.
This condition affected the
Romanov family and some members of Queen
Colour blindness: to perceive colour there are 3 separate alleles, each coding for red, green and blue pigments or opsins respectively. Opsins are protein molecules found in cones in the retinal. Each cone carries one type of pigment. The allele for blue is found on an autosome, but red and green are found on the X chromosome. If the allele for green is normal but the red is defective he cannot distinguish between red and green. If the red allele is normal but the green is defective again he cannot distinguish between the two.
If the father is colourblind, then both girls will be carriers. The males will be normal.
If the mother is a carrier, then the there is a 50% chance that the boy will be colourblind and a 50% chance that the girl will be a carrier.
XO = Turners syndrome. Short, low IQ, sterile, webbed neck
XXY = male. Tall. Low IQ. Sterile.
XYY = male. Tall. Klinefelders syndrome
|
BIOTECHNOLOGY Biotechnology//manipulation of biological organisms to obtain
desired products or effects. Genetic engineering//altering the sequence of DNA molecules. In 1976
Herbert Boyer and Stanley Cohen co-founded Genentech, the first biotech
company to go public on the stock exchange. Genetically modified
organisms: genetic manipulation of organisms, that involves the transfer of
genes from one species to another, to create transgenic organisms. METHODS OF GENE TRANSFER: 1.We can cut up DNA using restriction
endonucleases and place sections into plasmids for transfer. The cut piece of DNA can then be placed in
another organism using ligase enzymes. Restriction endonucleases or enzymes// Bacterial enzymes that cleave DNA into fragments
by recognizing specific recognition sites.We isolate them and use them to cut
up DNA. In bacteria they are used
like a crude immune system – it scans the bacterial DNA for viral fragments
of a bacteriophage virus. About 2500 have been isolated and are specific for
about 200 different target sites. Over 200 are available for use in labs. DNA
Ligases recreate the bonds to
reform the DNA. Ligases join complementary sticky ends produced by the same
restriction enzyme. An example is found on p34 of the course pack: human DNA is
spliced using the enzyme, which also cuts the plasmid of a
bacteria. The piece then is fit into the plasmid. The plasmid is now a
recombinant DNA //combination of
the original plasmid and foreign DNA. The plasmid can be replicated by the
bacteria, and the foreign gene will be cloned//exact copies of the original
fragment made when the cell divides. The bacteria can now make
human insulin. PLASMIDS: //small circular pieces of DNA that can exit or
enter the bacterial cell. Each has several thousand base pairs.They carry
genes for resistance to toxic heavy metals (Hg, Cd, Pb), to break down
herbicides, industrial chemicals, petrol. A plasmid responsible for crown gall (a plant
disease that causes large tumours in plants) called the Ti plasmid (tumour
inducing) is used to carry genes into plant cells. The plasmid infects
broad-leaved crops like tomato, tobacco, soya. The
tumour causing genes are removed and the space is filled with the DNA for transfer.
The Ti plasmid is then shot into the plant cells using a gene gun. 2. Viruses can be used as vectors that
carry DNA to a host cell. A virus will inject DNA
into a host cell and hence deliver DNA. The delivery
vehicle for the gene must have several characteristics: it must be safe, it
must efficiently deliver the gene to a high percentage of cells and it must
be targeted specifically to the appropriate cells. Turning a virus into a delivery
vehicle requires altering the virus to prevent it from causing disease. This
involves making replication-defective viruses that have been engineered so
they can’t reproduce in the body once delivered. The genes required for viral
reproduction have been removed. While this prevents the virus from spreading
in the patient, and limits the amount of inflammation caused in the body, it
makes the virus less efficient at getting into cells and delivering the
therapeutic gene. Thus, very high doses of virus vector are required to treat
a patient, which are harder to produce and can lead to safety issues.
Unfortunately, they are not very efficient and there is no integration of
the plasmid DNA. Therefore, the gene is not stable and the procedure must be
repeated every few months. The main advantages are that plasmid/liposome
complexes are really easy to manufacture, cause no immune response, and can carry
large genes. Additionally, the insertion of proteins into the outside of the
liposome may allow them to bind to only certain cell types, making it
possible to target them to diseased cells and no others. |
||
|
|
4. OTHER:
·
Electroporation: expose the cells to rapid pulses at
high-voltage current. This allows DNA to enter a cell.
DNA guns – high velocity tungsten microprojections
History Of
the Discovery of the DNA Molecule
THE LIVER
LIVER FUNCTION
The liver receives two litres of blood
a minute, from both the general circulation (hepatic artery), and the gut
(hepatic portal vein).
a.
Immune system filter: It has kupffer
cells which remove bacteria, debris and antigen-antibody complexes
b.
Major metaboliser: sorts through the
blood, storing or inter converting nutrients as required. It is able to convert
glucose to glycogen, glycogen to glucose, amino acids to glucose, amino acid to
amino acid, fat or glucose or amino acids to energy, glucose to fat and fat to
phospholipid. It can convert beta carotene to vitamin A, and it stores
nutrients like glycogen, vitamins B12, A, and D, and iron. It converts vitamin
B6 to its active form, pyridoxyl-5-phosphate (5 p173).
c.
Controls blood glucose. It responds
to pancreatic insulin and glucagon on an ongoing basis, and either stores
glucose as glycogen when the glucose in the blood is too high, or it converts
it back into glucose when the blood glucose is too low.
d.
The liver makes 95% of the plasma proteins. Albumen, fibrinogen and
prothrombin, essential for clotting.
e.
The liver makes very low density lipoproteins (VLDLs) from chylomicrons
absorbed from the gut.
f.
The liver makes 1g of cholesterol daily
g.
The liver makes a litre of bile a day.
h.
The liver metabolises many hormones. It conjugates estrogen, testosterone,
adrenaline, thyroid hormone and others, and excretes them in the bile for
elimination via the stool.
i.
detoxification of both
internal and external harmful substances. It has a detoxification system
composed of many enzymes which takes care of heavy metals, coffee, alcohol,
nicotine, drugs, pesticides, herbicides, industrial chemicals, hydrocarbons,
plant toxins, preservatives, flavourants, microbes, microbial metabolites,
hormones and additives.
NORMAL BILIRUBIN METABOLISM
The liver conjugates bilirubin.
Conjugated bilirubin can be excreted by the kidneys. However, most conjugated
bilirubin is secreted as part of the bile into the gut. Here microbes convert
it into urobilinogen. Some
urobilinogen is reabsorbed into the blood, and is recycled back to the liver.
5% of urobilinogen is excreted in the urine, giving it its yellow colour. The
urobilinogen in the gut is oxidised to stercobilin,
giving the stool its brown colour.
JAUNDICE
Jaundice refers to the yellow tint
given to body tissues, especially the sclera of the eye, by increased
circulating bilirubin. Normal bilirubin levels in the plasma are 0.5 mg%. If
these levels go over 1.5 mg%, the skin starts to yellow. Other symptoms and
signs are: pruritis (itching) due to circulating bile salts; steatorrhoea (fat
in the stool); high cholesterol levels; xanthomas (small fatty lumps deposited
in the skin); osteomalacia due to insufficient vitamin D (active vitamin D is
made by the liver); and hepatomegaly (an enlarged liver).
a. Haemolytic
jaundice: Increased erythrocyte (RBC)
haemolysis (breakdown) causes haemoglobin to start diffusing into the tissues.
Here macrophages slowly convert it to free bilirubin, which causes jaundice.
The liver is normal and can therefore conjugate bilirubin, but this reaches
saturation levels. In addition, urobilin excretion by the kidneys is at a
maximum and so the urine is very dark. Stercobilin will be present in the stool
because the liver is creating and secreting conjugated bilirubin normally. So
the presenting picture is jaundice, a dark urine and a
normal stool.
b. Obstructive
jaundice: The cause can be intra-hepatic or extra-hepatic. Intra hepatic
causes are viral hepatitis, damage by drugs or alcohol, or cirrhosis. Extra-hepatic
causes are gallstones or pancreatic cancer that obstructs the flow of bile out
into the small intestine.
In obstructive jaundice the free
bilirubin levels are normal, because there is no excess haemolysis and the
liver is conjugating. But the conjugated bilirubin cannot be cleared by
secretion via the bile into the gut, either because the bile or hepatic ducts
are obstructed, or the liver cells are damaged and hence the pathway to bile
secretion is congested. So conjugated bilirubin is reabsorbed
into the blood in larger amounts. Conjugated bilirubin can be excreted
in the urine, and can be seen as an intense yellow
foam on the urine once it is shaken. The stool has minimal stercobilin and is
therefore clay-coloured. The presenting picture is jaundice, a
yellow foam on urine and a light stool.
HEPATITIS
Hepatitis can be caused by a virus
(hepatitis A, B and C); a bacterium (e.g. TB, syphilis); a fungus; protozoa
(e.g. amoeba, malaria); a fluke; or by drugs and alcohol. Hepatitis causes
obstructive jaundice. Cirrhosis is a late and irreversible stage of chronic
hepatitis.
·
Hepatitis A (infectious hepatitis)
is caused by a picornavirus. It is spread by faecal-oral contact or blood.
Water and food borne epidemics are common.
·
Hepatitis B (serum hepatitis) is
spread by transfusion or by contaminated blood. There is a prodrome of flu-like
symptoms, followed by an icteric phase of jaundice. The liver is enlarged and
tender. It can go on to chronic hepatitis, usually ending in hepatocellular
failure and cirrhosis
·
Hepatitis C (previously called
non-A, non-B) is less common, but occurs in 10% of people receiving
transfusions. It is called serum hepatitis. Its mortality rate is higher than
in the other forms. About 40% can also progress to a chronic condition.
In hepatitis there is diffuse liver
cell destruction, and demonstrable dysfunction. The bile canaliculi (passages)
are often obstructed, so that the outflow of bile is impeded and there is
cholestasis (bile stasis), with jaundice, as discussed above.
The patient is jaundiced, has nausea,
vomiting, intolerance of fatty food, an enlarged tender liver, and a fever. The
urine is dark and stool light.
CIRRHOSIS
The liver architecture is no longer
normal, so that blood flow and bile flow are distorted and often blocked,
leading to obstructive jaundice and portal hypertension (pressures in the
portal vein draining the intestines go above the normal 8 mmHg). Death usually
results from hepatocellular failure.
Cirrhosis is most often acquired, and
is secondary to: alcohol abuse: chemical damage; hepatitis B or C infections;
congenital syphilis; and biliary obstruction.
GALLBLADDER
GALLSTONES:is due to an imbalance in the composition of bile.
Cholesterol is high and lecithin (needed to solubilise it) and bile salts are
both low. Stones develop, especially where there is stasis in the gallbladder,
and low water intake, which is the vital solvent of bile. These result in
abdominal discomfort, bloating, belching, and intolerance to many foods,
especially fatty foods.
If the stone is released from the
gallbladder, and becomes stuck in the common bile duct, pain occurs, and bile
backs up affecting: the gallbladder (possibly resulting in inflammation); the
liver (causing cholestatic jaundice); and possibly the pancreas depending on
where the stone is lodged.
85% of gallstones are made
predominantly of cholesterol and some calcium.
EFFECTS
OF GALLBLADDER REMOVAL
i. There is no bile reservoir to handle
fatty food
ii. There is some loss of water and minerals,
because the gallbladder concentrates bile.
iii. Colonic cancer in the ascending colon has
been associated with gallbladder removal. This is due to the continual
dribbling of bile into the gut, where microbes convert it into toxic
substances. Eating lots of fibre would help to bind some of this bile
THE PANCREAS
PANCREATITIS
Acute
pancreatitis presents with severe pain in the upper abdomin radiating to the
back. Fine haemorrhagic spots appear in the flanks and around the umbilicus.
The pain is made worse by movement. There is nausea and vomiting, upper
abdominal distension, gas, fever, sweating, increased blood pressure and muscle
aches. It can go on to massive bleeding and shock.
CAUSES
1. Inflammation
in the pancreas can occur secondary to problems elsewhere in the system e.g.
cystic fibrosis, systemic lupus erythematosis, or a viral infection.
2. Acute
pancreatic inflammation can follow common bile duct obstruction. The pancreatic
duct (the duct of wirsung) and the common bile duct share a common entrance
into the duodenum (the ampulla of vater). So blockage in the biliary system
often affects the drainage through the pancreatic duct, resulting in backing up
of pancreatic digestive juices. This can inflame the pancreas, and the
digestive enzymes can even begin autodigestion of the pancreas. The biliary
obstruction can be due to a bile stone or due to alcoholic inflammation of the
duct.
3. Pancreatic
inflammation can be secondary to alcohol ingestion.
4. Drugs can
cause pancreatitis e.g. diuretics, tetracycline, acetaminophen, cortisol and
the pill.
Inflammation
and some autodigestive damage can result. In most cases, though, the condition
is self-limiting. In a few cases, a complication like an
abscess occurs, and in a tiny percentage, shock and death results.
DIABETES
MELLITUS
Roughly
translated, diabetes mellitus means lots of sweet urine. Copious amounts of
urine are excreted (polyuria), and dehydration results. In diabetes
mellitus, the essential problem is an inability to move blood
glucose into the cells of the body, where it can be used or stored as glycogen
or fat. Because of this, it reaches high levels in the blood, resulting in a high fasting blood glucose. The large volumes of glucose
flowing into the kidney are more than its absorptive ability can handle, and
glucose, plus lots of water pulled along with it, are excreted (an osmotic
diuresis, with a urine that is sweet). The result is
excessive urination, and an accompanying thirst and appetite.
Pathognomonic
for both diabetes I or II is the presence of three symptoms: hyperglycaemia,
polyuria and polydipsia (excess thirst).
To
understand the difference between type I and type II, some physiology must be
covered.
Two
vital factors must be present for glucose to enter cells:
1. The presence of insulin - which is like a
key that unlocks the door for glucose to enter.
2. A sensitivity
on the part of the cell membranes to respond to insulin, and allow glucose to
enter.
Type One Diabetes: This is called insulin-dependent diabetes (IDD), and starts in
childhood. In type I diabetes, factor one (above) is affected: the pancreas is
not secreting enough insulin. The cause of this is not certain, but it may be
linked to a viral infection or an autoimmune process.
Because there is no insulin, glucose
cannot enter cells, and accumulates in the blood. Its only outlet is via the
urine, and so polyuria, dehydration and polydipsia, already described, results.
The cells become starved of their most easily accessible source of energy. The
brain is also starved of its major fuel source, blood glucose.
Other
fuels such as fat stores and lean body mass (protein) must be mobilised as
sources of energy. This results in weight loss in spite of an increased
appetite. The large amounts of fatty acids that are broken down and a byproduct
called ketones form. These ketones are excreted in the urine and on the breath,
but their high levels in the blood drop the pH to low levels, and affect brain
and enzyme function to such an extent that a hyperglycaemic ketotic coma can
result. Note that although there is plenty of glucose in the blood, the brain
is seriously deprived of glucose, and cannot continue functioning.
The
excess ketones impairs enzyme functioning. The result is fatigue, which is also
brought about by the dehydration, and the inability to use glucose.
Type I
diabetes requires insulin replacement, either as multiple daily injections, or
the use of a continuous supply insulin pump. This, together with continual
monitoring of blood glucose levels, is used in an attempt to mimic the moment
to moment control that the pancreas has over blood glucose levels. It is not
easy to get anything like the glucose balance that a normal pancreas achieves.
Type I
diabetics can get two kinds of coma. One is already described: the
hyperglycaemic ketotic coma. The other is the result of taking too much
insulin, either because of a frank overdose, or because the individual did not
eat enough, or did too much exercise, and so the insulin was too much relative
to his needs. This is a hypoglycemic hyperinsulinaemic coma. If a diabetic
seems to be losing consciousness, and it is not possible to find out which of
the two comas he has, the best is to give him glucose (a sweet). This will
immediately turn the tide if he is hypoglycemic, and if he is hyperglycaemic,
what difference will a little more glucose make? But it also serves to make the
diagnosis, and so his needs then become apparent.
Type
Two Diabetes: This is called non-insulin dependent diabetes (NIDD)
or adult-onset diabetes. In Type II diabetes, factor
two (above) is affected. The pancreas is not the problem, and is, at
first anyway until it begins to collapse, secreting excessive insulin. The
problem lies with the resistance that the cells have to insulin, and so great
stress is put on the pancreas to push out enough of the messenger (insulin),
until the receiver of the message, the cells, listen. It takes years of eating
simple sugars, putting on weight and not getting enough exercise to create this
disease. As the percentage of fat on the body, and the size of the adipose
cells increases, so there is a corresponding decrease in insulin sensitivity.
In fact, many people with poor lifestyle habits are either well on their way to
this disease, or have it without being aware of it.
Before
the onset of this type of diabetes, there is typically a phase called syndrome
X. The essential difference between type II diabetes and syndrome X is the
degree of insulin resistance. By the time it has progressed to diabetes, very
little glucose can get into the cells, and so instead of getting periods of
hyperglycaemia and hypoglycemia in response to meals, as is the case with
syndrome X, there is perpetual hyperglycaemia, as the glucose simply has
nowhere to go beyond the bloodstream. After a meal, the blood glucose rises to
over 200 mg/100ml, and although it does come down (a little goes into cells,
and the rest is lost in the urine), it doesn’t come down to fasting levels of
80-90 mg/100 ml. Also, because a little glucose does get into cells, this type
of diabetic is less likely to become ketotic or go into a coma.
Putting
Type II diabetics onto insulin injections, will of
cause not alleviate the condition. Instead,
this group respond best to healthier food choices, supplements which increase
insulin sensitivity, weight loss and exercise. Doctors also prescribe oral
hypoglycemic (blood glucose lowering) drugs. These include sulfonylureas like
chlorpropamide (diabinese) and tolbutamide (orinase). They work by stimulating
an already over stimulated pancreas to pump out more insulin, and they increase
insulin sensitivity. The long-term success with these drugs in maintaining
blood glucose and hence avoiding complications is estimated at about 30%.
Complications of Diabetes:Diabetes is not a simple disease. If the blood glucose is kept
at normal levels, the complications are far less, and we say the disease is
well controlled. Hyperglycaemia leads to
the complications that plague this disease. The long term effects of high blood
glucose are devastating to the body:
1. Glucose
binds to proteins in a process called glycosylation. This changes the structure
and the function of the protein:
a) It binds
to low density lipoproteins (LDL) which carry cholesterol around the body. LDLs
then cannot bind to their receptors. It is the binding of LDL to its receptor
which creates negative feedback inhibition and so cholesterol production is not
inhibited and rises high, leading to heart disease.
b) It binds
to the myelin sheath which surrounds nerves and contributes to the degeneration
of nervous functioning in the body. This can cause loss of touch and position
sense, so that a diabetic can easily hurt himself. It can affect gait, normal
digestion and urination. It can contribute to impotence, which depends on the
parasympathetic nervous system, or ejaculation which is a sympathetic nervous
system function.
2. Glucose
is metabolised by the enzyme aldose reductase to sorbital, which accumulates in
cells. When it builds up in the lens of the eye, it contributes to cataract
formation. It also accumulates in the nerves, leading to myo-inositol loss, and
affecting the speed of nervous transmission.
3. Glucose
is very bioactive and will oxidise to produce large amounts of free radicals.
Free radicals damage the linings of blood vessels as well as oxidise the LDLs
flowing in the blood, and it is this that so contributes to heart disease.
The
eyes and kidneys are affected by the hypertension, and blindness
and kidney damage are common complications
4. Free
radicals damage and cause thickening of the basement membranes of small
vessels, and this, together with the atherosclerosis, decreases overall blood
flow to the periphery, especially to the hands and feet. This slows wound
healing. The sugar is also a good
breeding ground for micro-organisms, and so diabetics can develop serious, even
gangrenous infections.
Recommendations: The
primary aim in both types of diabetes is to maintain control over blood
glucose. This means never allowing it to
ride too high or too low. By doing this, the acute complications from seesawing
blood glucose, as well as the long term complications mentioned already, are
reduced. The diet should be low in refined sugars and starches, and nutrient
dense. Equally important aims are to reduce free radical effects, maintain
optimal weight and achieve optimal nutritional status.
DIGESTIVE ORGANS
AND THEIR EXOCRINE SECRETIONS
[1] MOUTH
·
Mechanical digestion: changes the way the food looks, not its chemistry
·
Chemical digestion: chemically breaks down the food – catabolism.
Saliva: 99%
water, inorganic ions, mucus, amylase and
maltase.
Mildly acid (6-7.5)
Amylase breaks starch down to maltose
Maltase breaks maltose to glucose subunits
Salivary glands: 2 parotids, 2 sublingual, 2
submaxillary
·
Adults have 32 teeth [(2 + 1 + 2 + 3) x 4], children have 20 [(2
+ 1 + 2) x 4]
ESOPHAGUS: Food moves down by peristalsis, which is the contraction of circular and longitudinal muscle in a rhythmic way that takes the food down to the stomach.
[2] STOMACH
·
Mechanical digestion: churning by longitudinal, circular and oblique
muscles
·
Chemical digestion: pepsin breaks down proteins to peptide
chains
Lipase (?)
breaks down lipids to fatty acid and
monoglycerides
Rennin in
babies clots milk – forms curds and whey.
·
Hydrochloric acid: bacteriocydil
Denatures
protein
Releases fat soluble
vitamins (A,D,E,K) from food
Converts Ca, Fe,
Zn to a better ionic form for
absorption
Converts
inactive pepsinogen to active pepsin
·
Mucus: lubricates the bolus of chyme and
protects the mucosa/epithelial lining
SMALL INTESTINE
Exocrine secretion: Succus Entericus.
This contains:
a) peptidases: aminopeptidases and dipeptidases that break down peptide chains to amino acids ( note that short peptide fragments and even proteins can also be absorbed)
b) disaccharidases: break down disaccharides to monosaccharides
· lactase: breaks down lactose to glucose and galactose
· Sucrase: breaks down sucrose to glucose and fructose
· Maltase: breaks down maltose to glucose and glucose
c) Enteric lipase: breaks down lipids/triglycerides to free fatty acids and monoglycerides
d) Mucus, water and salt for lubrication
PANCREAS
Exocrine secretion:
a. Proteases: trypsin and chymotrypsin break down interior peptide bonds in polypeptide chains
Carboxypeptidase breaks the outer peptide bonds on polypeptide chains
b. Lipase: breaks down triglycerides to free fatty acids and monoglycerides
c. Amylase: splits starch/polysaccharides to maltose.
d. Ribonuclease and deoxyribonuclease splits DNA and RNA nucleotides into free mononucleotides.
LIVER
· Secretes bile,which is made up of :
a. bilirubin, formed by the breakdown of haemoglobin. A pigment.
b. bile salts which emulsify fats. Bile salts are made from cholesterol.
c. Cholesterol, and lecithin to solubilise it
d. Water, inorganic minerals, bicarbonate (to raise the chyme pH), steroid hormones that are to be excreted, drugs and heavy metals.
· The function of bile is:
1. to emulsify fats (micelle formation)
2. help in the absorption of calcium, cholesterol and fat soluble vitamins
3. to get rid of wastes. It is the main route of excretion of cholesterol and steroid hormones.
BALANCED EATING
NOTES:
1. 1 kcal = 4.2kJ
2. 1g of carbohydrate =
4.2kcals (17.2kJ)
3. 1g of fat = 9.3kcals
(38.9kJ)
4. 1 oz =
28g
A basic mixed diet consists of about 60%
carbohydrate, 25% fat and 15% protein.
On a 10 000 kJ a day diet (2380kcals) this would
consist of 300g carbohydrate, 60g fat, 75g protein.
For example, a sirloin steak of 4 oz yields 21g of pure protein. So
a 12 oz steak (336g) will give you your daily protein intake (this is a large
steak). Unfortunately, this will give you about the same number of grams of fat
(in excess of your requirements).
Another way to do this is to calculate the calories
in everything eaten in a day (see c.p. p182). Then
ensure that your daily intake shows moderation and variety, and that you choose
foods according to:
a. the 4 basic food groups
b. the food pyramid
1. breads and cereals 4 or more
servings
2. vegetables and fruit 4 or more
servings
3. milk products 2
or more servings
4.
meat/beans/nuts group 2 or more
servings
1. 6-11 servings of bread,
cereal rice, pasta
2. 2-4 servings fruit
3. 3-5 servings vegetables
4. 2-3 servings milk, yoghurt,
cheese
5. 2-3 servings meat, poultry,
fish, dried beans, eggs and nuts
6. Use fats, oils and sweets
sparingly
ONE
SERVING IS:
A
medium sized fruit or half a cup of fruit; a slice of bread or half a cup of
rice, cereal or pasta; a cup of raw vegetables; a cup of milk or yoghurt; 40g
of cheese; 85 g of meat, poultry or fish (3 oz - about the size of a deck of
cards), 2 eggs.
HOLISTIC NUTRITIONAL GUIDELINES:
1. Eat whole, unprocessed,
unrefined, fresh, in season, and preferably organic, food. These
foods contains fibre and are nutrient dense. Once we started refining
food, we introduced “the empty calorie” into our diets (foods that give us
energy, but little in the way of vitamins and minerals). Once food is
processed, all sorts of preservatives, flavourants and other additives are put
into the food. A lot of the nutrients and fibre are extracted.
2. Avoid hydrogenated oils or
oils damaged by heat.
3. Get enough essential fatty
acids (omega 3 and omega 6 oils)
4. Shop around the outside of a
supermarket, not the inside, where the shelved goods are – boxed goods are
processed and usually contain hydrogenated fats to prolong shelf-life.
NUTRIENTS
MACRONUTRIENTS
MICRONUTRIENTS
Note
CARBOHYDRATES
//Compound
of carbon and water: CxH2nOn
The
name usually ends in –ose
1. MONOSACCHARIDE (C6H12O6):
2. DISACCHARIDE (C12H22O11):
broken down by maltase
found in sprouting grains
broken down by sucrase
cane sugar
also found in beets, pineapple and carrots
broken down by lactase
lactose intolerance is due to a lack of lactase
enzyme
milk sugar
3. POLYSACCHARIDE (C6H1005)n + n(H2O) )
FATS/LIPIDS/TRIGLYCERIDES
The polyunsaturated oils include the essential fatty acids which must
be included in the diet to maintain health – these are the omega 6 and omega 3
oils found in nuts, seeds and oily fish.
PROTEINS
(NCHOPS)
Vegetarians
that eat eggs and dairy will get all the essential amino acids and are getting
good protein. But Vegans that only eat vegetables will not get complete protein
unless they combine grains, legumes, nuts and seeds in such a way as
deficiencies of amino acids in one are compensated by another. They still need
to eat a lot to get enough good quality protein, and a lot is lost to the
reduced digestibility of this diet. They also lack vitamin B12 (only made by
microbes and animals) and iron as animal iron is the most absorbable.
THE FLOW OF A BOLUS OF BLOOD THROUGH THE HEART
THE
HEART/CARDIAC CYCLE
1.
DIASTOLE
The
heart is at rest. During this time it fills with blood.
The
atrioventricular valves are open and the blood flows from the two atria into
both ventricles.
2.
ATRIAL CONTRACTION: ATRIAL SYSTOLE
Any
remaining blood is pushed into the ventricles
3.
ATRIOVENTRICULAR VALVE CLOSURE
The
right tricuspid and left mitral valves close. This results in the “LUB” heart sound.
4.
THE VENTRICLES CONTRACT: VENTRICULAR SYSTOLE
Because
both AV valves are closed and the semilunar valves are also closed, both
ventricles are contracting down on blood in a closed space. This results in a
great build-up of pressure. When the pressure in these ventricles exceeds the
pressure in the arteries leaving the ventricles, the semi-lunar valves are
forced open.Blood now leaves the heart. This is called EJECTION.
The
semilunar valves prevent the backflow of blood into the ventricles by closing.
This gives the “DUB” sound of the heart.
After
ejection, the heart again enters the diastole period.
One cardiac cyle is one
heartbeat. There are 60-80 cycles every minute.
TRANSPORT
VESSELS – BLOOD VESSELS
ARTERIES/ARTERIOLES
Arteries/arterioles are
vessels that must handle high pressures and at the same time they must be elastic.
They carry the blood pumped out of the heart to the tissues. In cross-section
they consist of 3 layers:
These are vessels that must
handle large volumes of blood, at low pressure, that is returning to the heart.
Blood return is achieved by:
·
Gravity in
vessels above the heart (head and neck)
·
Muscles
contracting around the vessels
·
One-way valves
inside the vessels that prevent any backflow
The same 3 layers that are found
in the arteries are also found in veins, but the middle muscular layer is much
thinner. There is no nervous supply to the middle layer and so the diameter of
veins/venules cannot be altered.
Capillaries reach every
corner of the body. The wall is a single layer of endothelium, and the average
diameter is 8 microns – just enough for blood cells to pass through. Gases,
nutrients and wastes cross the endothelium, allowing exchange between the
circulation and the cells.
LYMPHATIC
SYSTEM
·
Thus
the lymphatic system is part of the immune system, as well as being a part of
the circulatory system that returns plasma fluid to the blood again.
TRANSPORT
SYSTEMS
A transport system delivers
nutrients and oxygen to the cells and removes waste.
A. ORGANISMS
WITHOUT SPECIALIZED TRANSPORT SYSTEMS
1. UNICELLULAR ORGANISMS
The entire
transport process is achieved through diffusion and active transport across the
cell membrane.
2. SIMPLE MULTICELLULAR ORGANISMS
Most multi-cellular organisms have blood vessels, blood and a pump
specialized to transport substances around the body. This can be divided into
open and closed transport systems:
1. OPEN TRANSPORT SYSTEMS
An example is the grasshopper
that has one vessel, the aorta, and a long tubular heart, that carries blood
into the body cavity. This cavity is divided into chambers that bring the blood
in contact with cells. Material exchange occurs in the sinuses.
2. CLOSED TRANSPORT SYSTEMS
SEXUAL
REPRODUCTION
Generally, simple
animals reproduce asexually. It is
quick, simple and uses less energy, but does not allow for variation, which
makes the organism less resistant to changes in the environment (less adaptable
to evolutionary forces).
Sexual reproduction is common among multicellular organisms.
Definition of sexual reproduction: Two parents produce a
genetically unique offspring. Genetic information
from two cells is combined to form the genetic code of the new organism. In
complex animals, this involves two specialized sex cells – a sperm and an ovum
that combine to form a zygote. It results in variation and greater resilience
to environmental change.
1.
CONJUGATION
Sometimes bacteria produce
sexually by conjugation (usually when under stress). Two cells come in contact
and exchange small pieces of genetic information through a conjugation tube that
forms between them.
2. HERMAPHRODITES
An organism
that produces both male and female sex cells. They have both male and female sex organs. They can
reproduce with any other member of their species. This is a benefit when the
organism does not come into contact with its own kind often, so it does not
matter whether that other organism is male or female, they can function as both male or female. Examples are sponges and earthworms.
3. SEPARATE
SEXES
Most complex animals and some
plants have separate male and female sexes/sexual parts.
Cone producing plants produce
male and female cones which produce sperm and ova. Pollination and
fertilization produce seeds inside the female cone which are then dispersed and
germinate if they find the right conditions
Flowering plants have male
and female parts in flowers. Pollination and fertilization result in a seed
that will be enclosed in a fruit. Dispersal results in germination if the right
conditions are found.
Sex cells unite outside the
female body. For example, fish and frogs release egg and sperm into the water
and fertilization occurs in the water.
In most land animals, the
sperm are deposited inside the female’s body, and the ova are fertilized
internally. After this, either:
a. Oviparous: a fertilized egg is laid e.g. some
reptiles, birds
b. Ovo-viviparous: the
embryo develops in the mother’s body but is not nourished by her. It feeds on a
yolk sac e.g. some lizards and snakes.
c. Viviparous: embryo is attached to the uterine wall by a placenta and receive
nourishment and oxygen from the mother. The baby is born alive. This includes
all the placental mammals.
ASEXUAL REPRODUCTION
//Genetically
identical offspring are produced from a single parent. There is no
fertilization of a female egg by a male sperm. Because the offspring is
identical to the parent we say it is a clone.
There are different types:
Note that a spore is not the same as a
seed although it germinates like a seed. A seed is the product of sexual
reproduction in which an egg is fertilized by a sperm. A spore is the result of
asexual reproduction in which one parent makes an identical copy of itself that
can be carried by the wind to another place.
·
Growth
from bulbs (underground stems) e.g. onions, garlic, lily
·
Growth
from tubers (modified storage stems) e.g. potato
·
Growth
from roots e.g. carrots
·
Growth
from cuttings like a stem with a few leaves
·
Growth
of a new plant by taking a stem still attached to the parent plant and covering
it in soil – a process called layering e.g. strawberries
Growth of a plant from parts of the
parent plant rely on
a special type of tissue called meristematic
tissue. This is rapidly dividing, undifferentiated stem cell tissue that can
give rise to any part of a plant by becoming specialized. It is especially
found at the tips of roots and stems for rapid growth of these structures.
The first animal cloning was done by Robert Briggs and Thomas King
working with frogs. They removed the nucleus from a female egg (or ovum) – a
process called enucleation. Then they took the nucleus from a frog embryo and
inserted it into the enucleated egg. This egg cell now had the full amount of
DNA and did not need to be fertilized. It grew into an adult frog. Mammals have
also been cloned – mice, cats, cows and of course “Dolly” the sheep. Here once
the enucleated ovum is injected with the nucleus from an embryo or an adult
cell, it has to be implanted into the uterus of a “mother” to take it to term.
Recently there have been claims that two human babies have been
cloned. A frequent problem has been accelerated aging of these cloned animals.
Dolly had to be put down at the age of six because she had the lung and joint
disease of an old animal.
9. Parthenogenesis is
the development of a female ovum without fertilization by a sperm. This occurs
in plant lice, aphids, daphnia (water fleas), beetles, ants, bees, wasps, and
even some lizards (Rock and Whiptail lizards). For example, a queen bee will
lay fertilized eggs that give rise to the females
workers as well as unfertilized eggs which by a process of parthenogenesis will
grow into the male drones.
THE SCIENTIFIC METHOD
1. The independent variable is the factor in the experiment that is manipulated by the researcher.
2. The dependent variable is the factor in the experiment that changes in response to the independent variable. It is the outcome or effect.
Remember that
·
both the independent
and the dependent variables have to be measurable variables i.e. the variables
in an experiment have to be testable.
·
A
hypothesis is a testable prediction or educated guess on the outcome of the
experiment. It really doesn’t matter if this is the final outcome of the
experiment – a rejection of a hypothesis does not mean the experiment has
failed. The outcome is valid in its own right – the hypothesis was just a
guess.
3. The interfering variables are all the factors that could effect the relationship between the independent and dependent variable. Because we are trying to measure the relationship between these latter two variables, it is important to control the interfering variables.
(i) By inclusion and exclusion criteria. These are choices made right at the start as to who/what will be accepted into a study and who/what will not. These choices are based on the interfering variables identified, which then become part of what is excluded from the study.
(ii) By using study and control groups. A study group is the group that gets the manipulation and the control is the group that does not. The initial sample subset taken from the population is randomly assigned to one or the other group. In this way it is hoped that the two groups will be the same, and that the same interfering variables are present to the same extent in both groups. If this is achieved there should be no measurable differences between the two. The manipulation is then applied only to the study group. If the two groups are compared with each other, it is logical to assume that any measurable differences between them would have to be due to the manipulation and none of the interfering variables. In this way, the interfering variables have been controlled in that they do not affect the outcome.
REMEMBER: We are trying to measure the relationship between the independent and dependent variable, and keep any other variables from getting in the way of this.
4.There are many inherent weaknesses in study design:
(i) We cannot control all variables. Many times we don’t know all these variables. We cannot screen them all out, and if we use control and study groups we can never be sure if they are the same in all respects and that some bias hasn’t crept into the experiment.
(ii) The more we control the variables, the less like life it becomes. This becomes a problem when we extrapolate our findings back to the entire population. However, the more we control variables, the more confident we are in any association we see between the independent and dependent variable. This is the catch-22 of research.
(iii) All experimentation is ultimately subjective. It is also influenced by the society and the age within which that work was done.
DIVERSITY OF LIFE
HISTORY OF THE SIX KINGDOMS
There is also another level of classification above kingdoms, called the Domains: they are the bacteria, archaea and eukarya (protista, fungi, plantae, animalia)
TAXONOMY
Taxonomy is the practice of classifying organisms. 300 years ago, Carolus Linneaus (1707 – 1778) came up with a classification system based on simple physical characteristics. We still use this classification, but where and how organisms are placed within the framework of this classification changes continually, as we find out more about them, and we view the process of grouping organisms in different ways. Today we don’t only consider physical characteristics (anatomy and physiology), but also paleontology, phylogeny (evolutionary relationships), ontogeny (embryological development), behaviour, biochemistry and lately DNA and genetic features.
The organisms within each kingdom are further grouped and organized from general to specific, using categories called taxa: phylum, class, order, family, genus, species
(P.C OF GUS). As we move down the taxa, there are fewer and fewer organisms, and they are more and more closely related in evolutionary terms. Organisms within groups are more closely related to each other than organisms outside the group.
Each organism has a two-word name. This is called BINOMIAL NOMENCLATURE. The first word is the genus, the second the species.
Organisms belonging to a species are able to breed with each other and produce fertile offspring. Variation among species is the result of genetic mutation and sexual reproduction. Sexual reproduction allows for individual phenotypic expression from a large gene pool. This variation meets the prevailing environmental conditions, and those more equipped to produce many and healthy offspring will survive. This process of natural selection leads to evolutionary development that leads to the variety of kingdoms and the variety within kingdoms.
We study evolutionary relatedness by looking at
HUMAN SPECIES
Sub species sapiens
Species sapiens
Genus Homo
Subfamily Homininae
Family Hominidae
Superfamily Hominoidea
Suborder Anthropoidae
Order Primates
Infraclass Eutheria
Subclass Theria
Class
Mammalia
Superclass Gnathostomata
Phylum
chordate
Subkingdom Metazoa
Kingdom Animalia
PHYLOGENY
//The evolutionary history of organisms
CLADISTICS
//a classification scheme that is based on phylogeny
CLADOGRAM
//a branching diagram that resembles a phylogenetic tree. It shows relatedness in terms of branching off from common ancestors over time.
GENETIC ASSIGNMENT
You are an employee of a City Health Department and are required to create an informational pamphlet or booklet on a genetic condition or disorder. Produce a pamphlet that is appealing, easy to read but comprehensive. The following formation needs to be included:
Choose one of the following conditions:
Thalassemia
Albinism
Tay-sachs disease
Familial hypercholesterolaemia
Progeria
Haemophilia
Lou Gehrig’s disease/amylotrophic lateral sclerosis
Muscular dystrophy
Down syndrome
Cystic fibrosis
Turner’s syndrome
Klinefelter’s syndrome
Williams syndrome
Cri du chat syndrome
Other – must be approved by the teacher.