Ch 20 Biodiversity

Biodiversity
- The wide variety of life forms existing on Earth is referred as biodiversity

Biodiversity and Evolution

- Some scientists believe that the diverse life forms existing today are evolved gradually from a single origin (a
common ancestor)
- Studying biodiversity helps us understand the similarities and differences between different types of
organisms
→ Thereby we can deduce the evolutionary relationship (aka phylogenetic relationship) among organisms

Variations
- Genetic variations exist among members of the same type of organism
- Of all variations, some are favourable for survival in habitat, hence those organisms with favourable
variations can better adapt to their environment, survive and reproduce

Classifying Organisms
- To i) identify organisms more easily
- ii) study organisms systematically
- iii) understand the evolutionary relationship of organisms,
- scientists categorise organisms into different groups based on their degree of similarity

- The categorisation of things into groups is called classification

Linnaeus’ Classification System

- The Swedish scientist Carolus Linnaeus (1707-1778) developed a classification system
- He classified organisms with similar physical characteristic into categories arranged in seven levels

- In it, organisms are first grouped into kingdoms

- Within a kingdom, organisms sharing certain common characteristics are put into smaller groups called phyla
(singular: phylum)
- Organisms in the same phylum share more common characteristics than in the kingdom level
- By this way, organisms are classified into seven levels: Kingdom, phylum, class, order, family, genus, species
Ch 21 Ecosystems

21.1 Introduction to Ecology 生態學

- Organisms do not live on their own
- They interact with each other and with their environment
- The scientific study of interrelationships between organisms and their environment is called ecology

A. Levels of Organization in Ecology

1. Species 物種
- A group of similar organisms that are capable to interbreeding to produce fertile offspring

2. Population
- All organisms of same species in the same habitat at the same time

3. Community
- All organisms in a habitat (i.e. = total of all populations)

4. Ecosystem
- A self-sustaining, stable and dynamic system consisting of a community with organisms interacting with
each other and with their surrounding physical environment

5. Biome
- A complex of communities that covers a large area and is characterised by a dominant form of
vegetation
- Example include tropical rainforest 熱帶雨林, tundra 凍原, temperate grassland 溫帶草原, desert 沙漠
and savanna 稀樹草原

6. Biosphere 生物圈
- The part of the Earth inhabited by organisms: Oceans, land surfaces and lower parts of atmosphere
B. The Ecosystem Concept
- Ecosystem is the basic functional unit in ecology
- It consists of a community and their physical environment
- An ecosystem can be small, such as a pond, or large such as a mangrove or grassland

○1 Interactions between Organisms and the Physical Environment

- Organisms interact continually in various ways and develop relationships
[ Predation | Competition | Commensalism | Mutualism | Parasitism ]

- Organisms interact with their physical environment

- Environment affects organisms by organisms trying to adapt to specific conditions in ecosystem
- Organisms affect environment by taking up substances from it and releasing waste to it
o For example, plants take up minerals, carbon dioxide and water from environment and give off
water vapour and oxygen
o Animals use materials from environment to build shelters too

○2 Energy Flow
- All ecosystems need energy to support life

Entry
- Sun is the ultimate source of energy for most ecosystems
- During photosynthesis, light energy from the Sun in captured by photosynthetic organisms (e.g. plants)
and is converted into chemical energy stored in organic compounds (e.g. carbohydrates) in their bodies

Transfer – feeding
[Energy flows from organism (A) to another (B) in form of chemical energy in food when A is eaten by B]
- When animals feed on the plants, energy stored in organic compounds is transferred to animals
- The energy is further transferred when the animals are eaten by other animals
- Through respiration, organisms release energy from organic molecules (e.g. glucose) in food

Loss
- Energy is lost from organisms in form of heat during respiration, and as excretory products, faeces and
dead bodies

∴ To maintain a stable ecosystem, a constant input of energy from the Sun in needed

○3 Material Cycling
- Useful elements such as carbon [C] and nitrogen [N] are constantly recycled in ecosystem
Major Types of ecosystems in Hong Kong

○1 Freshwater 淡水 stream 溪流
- It is characterised by water flowing from upstream to downstream
- Water speed of water current is the major factor affecting distribution 分佈 and abundance 豐富度
(多少) of organisms in the stream

- E.g. Tung Chung stream

○2 Mangrove 紅樹林
- Mangroves are found at estuaries 河口 where freshwater streams meets the sea
- This ecosystem is characterised by presence of mangrove plants
- The soil has a high salinity and a low oxygen content

- E.g. Mangroves in Tai O

○
3 Grassland 草地
- The dominant vegetation is grass and herbs 草本植物

- E.g. Grassland in Sai Kung

○4 Woodland 林地
- Dominant vegetation is broad-leaved trees
- A wide variety of plants, including shrubs, grass and mosses are also present

- E.g. Woodland in Shing Mun Country Park

○5 Rocky shore 岩岸
- It is an intertidal area near the coast where rocks are dominated
- Organisms there are adapted to withstand strong wave action

- E.g. Rocky shore at Shek O

 21.2 Components of Ecosystem

An ecosystem is made up of two components

- Abiotic factors: The non-living component. They are the physical conditions of environment such as light,
temperature, water availability

- Biotic community: The living component. It includes all organisms in the community.
- Ecosystem = abiotic factors + community + relationships between organisms + ecological succession

A. Abiotic Factors and Their Effects on Organisms

1. Light

Significance
- It is needed by plant for photosynthesis and hence affects the distribution of plants in the habitat
- Sunlight is the ultimate source of energy for most ecosystem
____________________________________________________________________________________
To obtain maximum light for photosynthesis
- Terrestrial plants tend to reach a higher position by growing tall or climbing up, so that they are not
blocked from sunlight by other plants
- Many aquatic plants are confined to the surface of water

Effect on Organisms
a. Light intensity
- Light intensity and length of daylight affect rate of photosynthesis
- Also they affect and control many other processes in plants, e.g. flowering
o E.g. Some plants such as Epiphyllum 曇花 only flower at night

b. Length of daylight
- It determines the behaviours of animals
o Some animals are diurnal (e.g. lions), they are active during day and rest at night
o Some are nocturnal and are active at night only
▪ Nocturnal animals are adapted to survive in low light environments
▪ They develop good night vision (e.g. owls)
▪ or develop special senses (e.g. bats can use echolocation to detect prey or obstacles)

2. Temperature
- The effect of temperature on organisms is direct

Significance
- Most chemical reactions in cells are controlled by enzymes, which only work best within a narrow range
of temperatures
- Therefore, temperature affects the rate of metabolism
________________________________________________________________________________________
- At low temperatures, ice crystals may form within cells and cause physical damage or cell death
- At high temperatures, enzymes and proteins are denatured
- Organisms survive only within a certain temperature range in which it is metabolically and structurally
adapted
o For example, bananas and sugar canes can only grow in tropical and subtropical regions, but not
in cold regions

Adaptations
○1 Homoiotherms
- Mammals and birds are able to maintain a fairly constant body temperatures independently of the
environmental temperature by using physiological mechanisms
- They keep a constant high body temperature (35-44oC)
→ It allows homoiotherms to inhabit a wider geographical range and remain active all the time
○2 Dense fur or Blubber
- Mammals that live in cold climates, such as polar bears, have dense fur and blubber (a thick layer of
subcutaneous fat)
→ To reduce heat loss

○3 Larger surface area

- Mammals living in hot climates tend to have larger ears and longer limbs
→ This provides a larger surface area to promote heat loss

- E.g. Elephants have large ears which are richly supplied with blood vessels. Flapping of the ears promotes
heat loss

Poikilotherms
- Most animals, including all non-vertebrates, fish, amphibians and reptiles, are unable to maintain
a narrow range of body temperature using physiological mechanisms
- Their temperature varies with the environmental temperature (i.e. They are poikilotherms)
→ Poikilotherms are restricted to areas with a narrower temperature range

○4 Changing behaviours
- Some animals overcome extreme temperature by changing their behaviours

Hibernation
- For example, reptiles (e.g. snakes) and amphibians may hibernate during winter
→ Slow down metabolic rate to reduce heat loss to surroundings
→ To conserve energy by remaining inactive, to survive winter months when food is scarce

Migration
- Birds (e.g. swan) and butterflies may migrate to warmer climates during winter

Animals Adaptations Function Examples

Homoiotherm
- Maintains constant high body To inhabit a wider geographical
Mammals and birds temperature (35-44oC) range and remain active all the time
independently by using
physiological mechanisms

Mammals living in cold Dense fur and blubber

To reduce heat loss Polar bear
climates (a thick layer of subcutaneous fat)

Mammals living in hot To provide a large surface area to

Larger ears and longer limbs Elephant
climates promote heat loss

To slow down metabolic rate to

reduce heat loss to surroundings
Reptiles (e.g. snakes) and Hibernation
Snakes
amphibians - during winter
To conserve energy to survive winter
(as food is scarce)

Migration Birds (e.g.

Birds (e.g. swan) and
- migrate to warmer climates To avoid freezing to death swan) and
butterflies
during winter butterflies
3. Rainfall and Humidity
- Water is essential for life

Significance
- Rainfall is the main source of water
- Humidity (i.e. amount of water vapour in air) affects the rate of water loss by evaporation from body
surfaces of plants and animals
- Both rainfall and humidity affect amount of water available to terrestrial organisms
- Refer to Ch2 Molecules of Life
_______________________________________________________________________________________
Adaptations

Terrestrial organisms
- Terrestrial organisms have developed certain adaptations to conserve water

Plants living in dry areas

○1 Needle-shaped leaves
○2 Thick cuticle
- Plants living in dry areas, such as cacti (singular: cactus), have needle-shaped leaves and thick cuticle to
reduce water loss by transpiration

○3 Extensive root system

- They also have extensive root system to absorb as much water as possible

Animals living in dry and hot areas

○4 Thick Fur
- Animals living in dry and hot areas, such as camels, have thick fur to reduce water loss from body and
prevent heat gain from surrounding

Organisms Adaptations Function Examples

○
1 Needle-shaped leaves
To reduce water loss by transpiration Cactus
Plants in dry areas ○
2 Thick cuticle

○
3 Extensive root system To absorb maximum amount of water Cactus

Animals in dry and hot To reduce water loss from body and
○
4 Thick fur Camels
areas heat gain from surroundings

4. Wind and Water Movements

Significance
- Wind helps in pollination and dispersal of seeds in some plants
- However, strong wind lowers humidity and hence increases transpiration rate of plants
- Wind also affects water currents and wave action in aquatic environments
________________________________________________________________________________________
Adaptations

Plants living in habitats with strong wind

○1 Fleshy leaves with thick cuticle
- To prevent excessive water loss by transpiration, plants living in habitats with strong wind may develop
special adaptations, such as fleshy leaves with thick cuticles

○2 Attach firmly
- Strong wind may also blow organisms away from their habitats. They need to attach firmly to withstand
strong wind
 Organisms living in fast-flowing streams
○1 Flattened body
- Organisms living in fast-flowing streams may have flattened body (e.g. chiton)
- This i) reduces their resistance against water and ii) allows them to hide under rocks to avoid being swept
away by water currents

○2 Modified mouth or fins like suckers

- Some fish have modified mouth or fins to function like suckers, so that they can hold themselves onto
rocks in fast-flowing streams

Organisms living on rocky shores

○1 Hard shell
- Organisms living on rocky shores (e.g. barnacles) usually have a hard shell for withstanding the strong
wave action

○2 Attach firmly
- They are also able to attach firmly to the rocks

Organisms Adaptations Function Examples

To prevent excessive water loss
○
1 Fleshy leaves with thick cuticle
by transpiration
Plants living in habitats with
strong wind To avoid being blown away
○
2 Attach firmly
from habitat

i) To reduce their resistance

against water
Chitons
○
1 Flattened body
Organisms living in fast- ii) To allow them to hide under 石鱉
flowing streams rocks so not to being swept
away by water currents
○2 Modified mouth or fins like Hillstream
To hold onto rocks
suckers loach 泥鰍

To withstand strong wave

○
1 Hard shell
Organisms living on rocky action Barnacles
shores To avoid being washed away 藤壺
○
2 Attach firmly
from habitat

5. Oxygen Concentration

Significance
- Most organisms need oxygen to survive by undergoing aerobic respiration
- It determines what organisms an aquatic habitat can support
________________________________________________________________________________________

As oxygen makes up 21% of the Earth’s atmosphere

- It is rarely a limiting factor for terrestrial organisms except for those living in very high altitudes where
oxygen concentrations are low
 In water
- However, oxygen concentrations are much lower (approximately 1%) in water, and can fluctuate
depending on a number of factors

(i) Temperature [-]

- When temperature increases, the solubility of oxygen in water decreases, therefore the
concentration of dissolved oxygen decreases

(ii) Water movements [+]

- When water flows more quickly, the concentration of dissolved oxygen increases as turbulence
急流 and splashing 濺 can bring more water in contact with oxygen in air

(iii) Organic matter [-]

- Concentration of dissolved oxygen decreases in the presence of organic matter as microorganisms
uses oxygen for decomposition of organic matter

Aquatic organisms vary in their oxygen requirements

- Some species, such as trout 鱒魚, require high concentration of dissolved oxygen to live
- Other species, including carp 鯉魚 and water scorpion, can tolerate low concentration of dissolve oxygen

∴ The amount of dissolved oxygen determines what organisms an aquatic habitat can support

6. Salinity 鹽度
- Salinity is the level of dissolved mineral salts in water bodies or in the soil

Significance
- It affects the availability of water and minerals to organisms
______________________________________________________________________________________
Adaptations

Organisms living in low salinity or freshwater habitats

○1 Remove excessive water
- Organisms living there have adaptive features to get rid of excessive water from their bodies

Organisms living marine habitats

○1 Remove excessive salts & Prevent excessive water loss
- Conversely, organisms living in marine habitats have features to remove excessive salts and prevent
excessive water loss, so that they can survive in seawater with high salinity

Organisms living in estuaries or salt marshes 沼澤

○1 Regulate water and salt contents
- Since they live in habitats with large fluctuations in salinity, relatively few plants and animals have
special abilities to regular water and salts contents of their bodies, so that they can survive a wider
range of salinities

Mangrove plants
○
A Salt glands
- For example, the leaves of some mangrove plants have salt glands to remove excessive salts from
the body
 Organisms Adaptations Function
Organisms living in low salinity or
Adaptive features to get rid of
freshwater habitats -
excessive water from their bodies
[Low salinity]

Organisms living marine habitats Features to remove excessive salts and

-
[High salinity] prevent excessive water loss

Organisms living in estuaries or salt

marshes
[Fluctuating salinity]
E.g. Mangrove plants
Special abilities to regular water and To survive a wider range of
salts contents of their bodies salinities
To remove excessive salts from
A Salt gland on leaves
body

7. Soil
- Soil is a key component of terrestrial ecosystems

Significance
- Soil provides plants with a substratum for anchorage, supplies of water and minerals for plant growth
and oxygen for respiration of plant roots
- The nature of soil* determines the type of plants that can grow in the soil

* The nature of soil depends on factors including

i) size of soil particle
ii) air content
iii) water content
iv) nutrient content
v) pH value
________________________________________________________________________________________
Sandy 沙粒 soil
- A sandy soil is made up of relatively large particles with large air space
- It cannot provide enough anchorage for large plants

Silt 泥沙 and Clay 黏土

- On the other hand, soil particles in silt and clay are smaller and more closely packed
- There are small air spaces between soil particles which are easily flooded with water
- As a result, the soil becomes water-logged and poorly aerated 通氣 (i.e. the oxygen content becomes very
low)
 Organic matter
- The organic matter in soil mainly comes from animal droppings and dead remains of organisms
- Microorganisms in soil decompose the organic matter to form humus 腐殖質
- Soil with a high humus content retains water much better and usually have a higher mineral content

Organic matter → decomposition → formation of humus → Higher water content & Higher mineral content

B. The Biotic Community

1. Habitat and niche
- Habitat is the physical (abiotic) environment in which an organism lives
- It provides the necessary conditions for the organism to survive

- Niche 生態位 of an organism is the role an organism plays in a community

- It refers to the way of life of an organism and is determined by the habitat, types of food it eats, its
relationship with other organisms and its effect on the environment

In nature
- Each species occupies a specific niche
- No two species can exist stably at the same time if they have the same niche. They will compete with
one another until one is displaced

2. Species diversity and dominant species

- Species diversity is a measure of the variety of species in a community
- It is determined by both the number of species in community (i.e. species richness) and the relative
abundance of the difference species (i.e. evenness of distribution of individuals of different species)

- There are both four species, A, B, C and D, in both communities. In other words, species richness of
the two communities is equal
- However, when looking at the relative abundance of species, we can see that
i) in community I, all four species have the same relative abundance
ii) in community II, Species A significantly outnumbers the other three

∴ Community I is more even than community II, therefore have a higher species diversity as well
 Dominant Species
- Dominant species in a community are the most numerous ones or those having the highest total biomass
in community
- They tend to exert a strong influence on composition and diversity of the community

In terrestrial ecosystem
- Dominant species is usually the commonest type of plants
- For example, the dominant species of Hong Kong woodlands is often evergreen broad-leaved trees.
They largely 很大程度上 affect the types of animals living in the community

C. Relationships between organisms in a community

- Organisms in a community interact with each other in various ways

1. Predation [+, -]
- Predation is the relationship between two species in which the predator captures, kills, and feeds on the
prey
- In this relationship, the predator is benefited (+) while the prey is harmed (-)
- The populations of both the prey and predator may exhibit a cyclic change
- As the predator depends on the prey for food supply, changes in the population of the predator always
lag behind 滯後 that of the prey

t1
- As the prey population grows, more food is available to predators, so the predator population
increases subsequently
t2
- Continued and increasing predation causes the prey population to decrease
t3
- The reduced food supply can no longer sustain the predator population. With fewer predators, the
prey population increases again and the cycle start over
2. Competition [-, -]
- Competition occurs when organisms (competitors) living in the same habitat strive for some common
needs, e.g. food, water, shelter, mates and sunlight
- In this relationship, all organisms involved are harmed

There are two types of competitions:

○1 Intraspecific competition
- The competition among organisms of the same species
- For example, barnacles of the same species attaching on the same piece of rock compete for food and
space with each other

○2 Interspecific competition
- The competition among organisms of different species
- For example, barnacles and limpets 帽貝 on the same piece of rock compete for food and space

- As individuals of the same species have more common needs, intraspecific competition is usually more
intense than interspecific competition

3. Commensalism [+, 0]
- In commensalism, two species live together, and one of the species (the commensal) is benefited (+)
while the other (the host) is neither harmed nor benefited (0)

Barnacles & Crabs

- For example, barnacles may attach themselves on the shells of crab
- The barnacles gain mobility and obtain food remains from the crabs while
- The crabs are unaffected

Trees & Epiphytes

- Another example of commensalism is trees and epiphytes 附生植物
- Epiphytes benefits by growing on tree trunks so that they can obtain maximum sunlight
- The trees are unaffected by the epiphytes’ attachment
4. Mutualism [+, +]
- Mutualism is the relationship between two species in which both are benefited (+, +) by living together

Sea Anemone & Hermit Crabs

- An example of mutualism is sea anemones living on the shells of hermit crabs
- The sea anemones obtain food remains and gain mobility from hermit crabs
- At the same time, the hermit crabs benefit from the protection provided by the stinging cells on
tentacles of anemones, which contain toxins

Lichen [Alga & Fungus]

- Another example of mutualism is lichen 地衣, which consists of an alga and a fungus living together
- The alga carries out photosynthesis, producing food for itself and the fungus, while
- The fungus i) provides anchorage, and ii) extracts water and minerals from substratum so that both
organisms can grow
- In this way, they can survive in harsh environment, such as rock surfaces and tree trunks

5. Parasitism [+, -]
- In parasitism, one species (the parasite) lives on or inside another species (the host), depending the host
for food and shelter
- The parasite therefore gains benefits (+) while the host is harmed (-)

- Tapeworm is a parasite living in the intestines of some mammals (e.g. humans)

- It absorbs digested food from the host, while the host is harmed by losing nutrients
D. Ecological succession
- Ecosystems are dynamic, i.e. abiotic factors and biotic community do not remain unchanged indefinitely
- Ecological succession is the process of the community in a habitat gradually being replaced or changed
over a period of time
- These changes are brought by interactions between organisms and changes in abiotic factors

During ecological succession

- Organisms change the environment in such a way that the environment becomes less favourable for the
original species
- The species will be replaced by other species that can adapt to the environment better
- This continues until a climax community is established

Climax community
- The climax community is the most diverse community that a habitat can support
- It may vary seasonally or fluctuate in a minor way, but is basically stable
- It will not be replaced unless sudden changes occur in the environment, e.g. fire, drought 旱災

1. Primary succession
- Primary succession takes place over a bare or unoccupied area where no community has existed
previously
- Bare areas may be formed by geographical changes

- Examples include bare rock exposed by retreating 後退的 glaciers 冰川 or a new island created by
volcanic activities
- Human activities, such as reclamation 填海, also create new coastal areas

Pioneer community
- The first community that colonise the bare land is called a pioneer community. Soil is initially absent at
that time
- It consists of species that can grow in adverse conditions, e.g. lichens and mosses 苔
 Occurrence of Primary Succession
○
1 Development of a community in a previously unoccupied habitat with no original living organisms

○
2 Pioneer community are often fast-growing, tolerant and well-dispersed plant species, e.g. mosses, grass

○
3 Substrata with organic matter are formed, allowing species with higher demand to survive

○
4 Larger organisms can then be supported and the community develops until it reaches climax community

2. Secondary succession
- Secondary succession that follows disruption of a pre-existing community
- It is more common than primary succession
- It may occur in abandoned crop fields, burned forest or areas damaged by storms or floods 水浸

- The process is similar to primary succession except that secondary succession i) starts with a more
complex pioneer community and ii) develops more quickly (as soil already exists)
- The soil may contain seeds, roots and underground vegetative 植物性的 parts of plants, which can grow
and develop into new plants when conditions becomes favourable

Primary Succession Secondary Succession

Takes place in a bare or unoccupied

Takes place in areas after disruption
area where no community has existed
of a pre-existing community
previously

Longer for climax community to Faster for climax community to

establish establish

Pioneer community Climax community

Opportunists dominant Specialist dominant

Few species types Great biodiversity

Small total biomass Large total biomass

Mainly small organisms Mainly large organisms

 21.3 Functioning of Ecosystem
- In this section, we will study how energy flows and materials cycle in an ecosystem

A. Energy flow in ecosystem

- Refer to 21.1 B ○ 2 Energy Flow

Food Chain
- A food chain shows the sequence of organisms in a particular feeding relationship

- Arrows in food chain indicate the direction of energy and material flow
- Along food chain, chemical energy stored inside food are passed from one organism to another
- Organisms in food chain may act as producers, consumers or decomposers

○
1 Producers
- At the start of all food chains
- Producers are autotrophs 自養生物 which can make their own food
- These include plants, algae and photosynthetic bacteria

Energy flow
- Through photosynthesis, they capture light energy and convert it into chemical energy which is
stored in organic compounds

○2 Consumers
- Consumers are organisms that depend on other organisms for food
- All animals are consumers
- Animals which feed on plants only are called herbivores
- Animals which feed on other animals are called carnivores
- Animals that feed on both plants and animals are called omnivores, e.g. humans

Energy flow
- Primary consumers feed on producers
- Secondary consumers feed on primary consumers
- Tertiary consumers feed on secondary consumers

○3 Decomposers
- Decomposers are organisms that feed on excretory products, faeces or dead bodies
- Many fungi and bacteria are decomposers

Energy flow
- As decomposers feed on waste materials or dead organisms, they break down the organic
compounds into inorganic nutrients
- Some of these inorganic nutrients will be absorbed by plants and enter food chain again
Food Webs
- Feeding relationships are usually more complex
- An animal may feed on several species while a prey may have several predators

• Snake is considered as secondary consumers when

it eats grasshoppers

• It is also a tertiary consumer when it eats frog

Example: Marine community

Secondary Consumer [Carnivore]

Producer
Jellyfish
Unicellular algae and phytoplankton 浮游植物
- Feed on zooplankton
- Autotrophs which carry out photosynthesis
Coral
Kelp
- Also feed on zooplankton
- Large seaweeds
- Carry out photosynthesis
Lobsters
- Feeds on sea urchins
Primary Consumer [Herbivores]
Zooplankton 浮游動物
Tertiary Consumer [Carnivore]
- Heterotrophs which feed on phytoplankton
Turtles
- Feeds on jellyfish
Sea urchin
- Feeds on seaweeds
Parrotfish
- Feeds on corals by grinding them

Trophic Levels
- Level at which an organism feeds in a food chain is called trophic level
Trophic Level Role Organisms

Plants, algae and photosynthetic

1st trophic level Producers
bacteria

2nd trophic level Primary consumers Herbivore

3rd trophic level Secondary consumers Carnivore

4th trophic level Tertiary consumers Carnivore

Energy Transfer
- Energy transfer between trophic levels is inefficient
- Less than 10% of energy is transferred from one trophic level to the next

At each trophic level

About 30% Energy obtained – Lost as heat through respiration
- Chemical energy in food eaten is released as heat

About 60% – Remains stored in excretory products, egested materials & dead bodies
- Excretory products include CO2, urea 尿素 and urine
- Undigested and unabsorbed materials are egested as faeces
- Chemical energy in uneaten organisms cannot be transferred to next trophic level

- Energy stored in these substances is only available to decomposers

- They feed on the above materials to break down the organic compounds into inorganic nutrients
- Some inorganic nutrients are absorbed by plants to be used again

Less than 10% – Used to make body material

- [When it is fed on, these less than 10% is transferred to the next trophic level]

= 100%

Due to great loss of energy (90%) at each trophic level, number of trophic levels is limited to usually
maximum five

Ecological Pyramids
- Ecological pyramids are used to represent the loss of energy at each trophic level
- We can use number of organisms at each trophic level, or total dry mass of organisms at each trophic
level to draw it

○
1 Pyramid of Numbers
- It is drawn by showing number of organisms at each
trophic level in a food chain
- Width (or area) of each bar is proportional to the
number of organisms at that level

Typical pyramid of number

- Producers occupy the base
- In general, producers are most abundant in number A Typical pyramid of number

∴ It has a broad base.

- Since i) energy available to next level decreases along a food chain and ii) predators are larger than prey
- number of organisms that can be supported by a higher tropic level is usually smaller than a lower tropic
level
∴ It is narrower up the tropic levels
 Atypical pyramid of numbers
- However, a disadvantage of pyramid of numbers is
it fails to consider the relative size of organisms

- For example, sometimes the 1 size of producer is

very large
- Oak tree is very large. One is enough to support a
large number of herbivores An Atypical pyramid of numbers

- Another example is 2 parasite

- Fleas are much smaller than birds. So one bird can
support can fleas

○
2 Pyramid of Biomass
- Biomass is the total mass of living substances in organisms
- Width (or area) is proportional to the amount of living substance in organism’s body, which reflects the
amount of energy stored

Upright pyramid of biomass

- Producers usually have the greatest biomass → It shows producers have the greatest amount of energy
- Biomass decreases as trophic level increases
- In most cases, pyramids of biomass are upright

Inverted pyramid of biomass

- In some cases, it can be an inverted pyramid of biomass
- For example, phytoplankton (producers) in sea are very small and have high turnover rate (rapid growth,
short reproductive cycle, high consumption rate)
- Therefore their biomass at a given time is small, but due to high rate of productivity, they can provide
enough energy to support a large number of zooplankton (primary consumer)

Methods
- Ideally dry mass should be compared
- This can either be estimated by wet masses by weighing, or determined by destructive methods (e.g.
putting organisms into an oven at above 100oC until all water inside is evaporated)
B. Cycling of materials in ecosystem
- Unlike that energy is eventually lost from ecosystem, essential elements in organisms (e.g. carbon &
nitrogen) are constantly recycled between organisms and physical environment

Carbon cycle

Photosynthesis Feeding
In air & water Producers Animals Dead bodies Decomposer
CO2 & dissolved CO2 C in organic compounds C in organic compounds C in organic compounds C in organic compounds

Reservoir pool – Atmosphere and dissolved CO2 in water

- The main carbon source for organisms is carbon dioxide in atmosphere and those dissolved in water

○
- Carbon dioxide removal from environment

Photosynthesis
- Producers remove carbon dioxide from environment by carbon fixation and convert it to organic
compounds (mainly carbohydrates) in their bodies

Carbon transfer between trophic levels

Feeding
- Carbon in organic compounds in producers is transferred to consumers at higher trophic levels through
feeding

○
+ Carbon dioxide returned to environment

Respiration
- During respiration, organic compounds in organisms are broken down to release carbon as carbon
dioxide

Decomposition
- Decomposers breaks down organic waste and dead bodies
- Carbon in organic compounds are converted to carbon dioxide

Burning of Fossil Fuels

- Dead bodies buried underground may turn into fossil fuels, e.g. coal and oil, over millions of years
- Carbon inside is released as carbon dioxide when burnt

• The carbon cycle is balanced if the

rate of removal of CO2 by photosynthesis
equals the rate of CO2 returning to the
environment
Nitrogen cycle

In soil air In air

Nitrogen gas Nitrogen gas
(N2) (N2)

Nitrogen Denitrification Lightning

fixation
Nitrification Nitrification
In soil In soil In soil
Ammonium compounds Nitrites Nitrates
(NH4+) (NO2-) (NO3-)

Ammonification Absorption

Organic waste & dead bodies Plants

Protein death Protein

death Feeding

Animals
Protein

Addition of nitrogen to soil

Lightning [Nitrogen gas N2 → Nitrate NO3-]

- Lightning causes nitrogen (N2) in the atmosphere to combine with oxygen to form nitrogen oxides (NO,
NO2)
- After dissolving in rain water, nitrogen oxides form nitrate ions (NO3-) in soil

Nitrogen fixation [Nitrogen gas N2 → Ammonium compounds NH4+]

- Nitrogen-fixing bacteria convert nitrogen in soil air to ammonium compounds in their bodies
- Some nitrogen fixing bacteria live in root nodules 根瘤 of leguminous 豆科 plants, such as pea and
soybean

Mutualism
- Nitrogen-fixing bacteria obtain carbohydrates from leguminous plants for energy and growth
- Leguminous plants gain fixed nitrogen [ammonium compounds] from the bacteria

Ammonification [Ammonium compounds NH4+ → Nitrate NO3-]

- Putrefying bacteria and fungi are decomposers
- They carry out ammonification, i.e. breaking down organic waste and dead bodies to convert nitrogen
into ammonium compounds

Nitrogen transfer between trophic levels

Feeding [Protein → Protein]

- Through feeding, the nitrogen in organic compounds in producers is transferred to consumers at higher
trophic levels
Removal of nitrogen from soil

Absorption [Nitrate NO3-→ Protein]

- By absorption by roots, producers obtain nitrogen mainly in form of inorganic nitrate ion from the soil to
make organic compounds (e.g. protein, nucleic acid)

Denitrification [Nitrate → Nitrogen gas N2]

- Under anaerobic conditions, denitrifying bacteria change nitrates in soil into nitrogen gas
- The nitrogen gas is released into the atmosphere

Role in Energy Flow Role in Cycling Carbon and Nitrogen

Producers • Capture & convert light energy into • Take up inorganic carbon [CO2] and
chemical energy in organic compounds nitrogen [NO3-] from environment
through photosynthesis and incorporate them into organic
compounds in their bodies
• Return carbon to the environment
in form of carbon dioxide through
respiration

Consumers • Transfer chemical energy in organic • Transfer carbon and nitrogen in

compounds along food chain through organic compounds along food
feeding chain through feeding
• Return carbon to the environment
in form of carbon dioxide through
respiration

Decomposers • Return nutrients to environment in • Return carbon and nitrogen in form

form of inorganic compounds, which of inorganic compounds [CO2, NO3-]
can be taken up by producers again by breaking down the organic waste
• Energy is not recycled during and dead bodies of organisms
decomposition, but is released as heat
21.4 Conservation of Ecosystems

Impacts of Human Activities on Ecosystems

- With increasing human population, there are increasing demands on the environment for food, fuels
and other resources

Undesirable impacts on the environment:

(a) Destruction of natural habitat

- Large areas of forests are cleared to obtain land or timber

(b) Over-exploitation of natural resources

- Over-fishing results in the depletion of fish stocks

(c) Extinction of species

- Wildlife is threatened by being killed for food or for the production of valuable products

(d) Land pollution

- Large amount of solid waste are produced every day

(e) Air pollution

- Combustion of fossil fuels releases many pollutants that are harmful to our health and environment

(f) Water pollution

- Sewage from factories contains toxic chemicals that kill aquatic lives

Conservation of Ecosystem

1. Protection of natural habitats

- Conservation area (e.g. country parks and marine parks) are set up to protect natural habitats

2. Protection endangered species

- Hunting and trading of endangered species are prohibited by laws
- Endangered species may be kept and bred in zoos or botanic gardens

3. Management of natural resources

- Reduce use of natural resources and production of waste
- E.g. Discourage overuse of shopping bags

4. Pollution control
- Control smoke emissions from factories and power station
- Treat sewage before discharging into waters
21.5 Ecological Study of Local Habitats

Sampling
- A smaller representation part of the population is called a sample
- Random sampling and systematic sampling

○
1 Quadrat
- Quadrat is a wooden or metal square frame enclosing fixed area, such as 1 m2
or 0.25 m2
- It is used for random sampling to estimate the abundance of plants and
immobile or slow-moving animals in a fairly uniform habitat

Method
- The quadrat is randomly placed on the ground
- Then count and record the number of organisms in the area enclosed
- In order to make the estimation more reliable, repeat it several times at different positions and obtain a
mean value

✓ Range of species distribution

 Abundance of species

(a) Percentage Frequency

- A measure of probability of finding the species there

- It is obtained by simply recording presence of absence
of species in quadrats

- Can be used as preliminary study of relative abundance

of different species

(b) Density

- The absolute density of a species refers to the number

of individuals of the species in a given area
- It is an absolute measure of species abundance

- Relative density of a species is a number of its

individuals expressed as a percentage of the total
number of individuals of all species

(c) Percentage Cover

- Percentage cover of a species is a measure of the

proportion of ground occupied by the species
- It is suitable for representing the abundance of
organisms that cannot be counted individually,
such as mosses and algae
 ○
2 Transect
- Transect is a method of systematic sampling measuring transition of species across a habitat
- Line transect is a piece of inelastic string or tape marked at regular intervals

a Line Transect

Method
- A transect is placed in a specific direction such at it cuts across the areas showing changes in population
and abiotic factors to be studied
- For example, in rocky shore, you may place a transect from the upper shore towards the sea
- Moving down the transect line, record all individuals that are touching the line all the way along or at
regular intervals

✓ Range of species distribution

 Abundance of species

b Belt Transect

Method
- Two transects are placed parallel to each other at 0.5m or 1m apart
- The number of organisms within two transects is recorded

An easier method
- First, lay the transect along the area and place a quadrat on one side of the transect
- Record the position of quadrat and number of organisms inside the quadrat
- Then, move the quadrat along the transect
- Alternatively, place the quadrat next to the transect at regular intervals (e.g. 2m)

✓ Range of species distribution

✓ Abundance of species
Summary
Quadrat Line transect Belt transect
Habitats that show transitions of species and environmental
Habitat suitable for study Fairly uniform habitats
conditions

Systematic
Sampling approach Random - Area of study is carefully chosen for specific environmental
conditions of interest
✓ Range of species distribution ✓ Range of species distribution ✓ Range of species distribution
Data obtained ✓ Abundance of species

Measuring Abiotic Factors

Abiotic Factors Instruments

Light meter has a light probe (a

sensor) for detecting light. Read
1 Light Intensity Light meter
the light intensity value from the
screen

2 Temperature Thermometer
Wet-and-dry-bulb thermometer
3 Relative Humidity
Thermohygrometer
4 Wind Speed Anemometer

5 Oxygen Concentration in Water Dissolved oxygen meter

Salinity of a water sample is
determined by refractive index of
6 Salinity Refractometer
the water (which is influenced by
the salt concentration)
pH meter
7 pH Value
pH paper
Ch 26 Body Defence Mechanism

The Importance of Body Defence

- Body defence prevent pathogens from entering our body and destroy pathogens that have entered our body

- Defence mechanisms of the human body can be grouped into two types according to their specificity of
action:

○
1 Non-specific defence mechanisms
- Act against all types of invading substances, including both pathogens and non-pathogenic substances

○
2 Specific defence mechanisms
- Act against specific pathogens

Non-Specific Defence Mechanisms

- Non-specific defence mechanisms are inborn and provide general, non-selective protection against any
foreign substances

First Line of Defence

○A Physical Barrier
○B Chemical Barrier
- To prevent pathogens from entering our body

Second Line of Defence

○C Blood clotting
○D Phagocytosis
○E Inflammatory response
- They are activated to immobilise and destroy pathogens

Last line of Defence

Immune response [Humoral response & Cell-mediated response]

A. Physical Barrier
- Our body surface and the respiratory tract are common sites to be invaded by pathogens as they are
constantly in contact with external environment
- These body parts are covered by skin and mucous membranes, which are effective barriers to pathogens

○1 Skin
- The outer layer of the skin is epidermis which consists of several layers of cells

Action
- The outermost layer of epidermis consists of dead cornified cells
- It is waterproof and impermeable to pathogens
 ○2 Mucus and cilia
- When we breathe, pathogens in the air may enter the body through the respiratory tract
- There are special structures in the respiratory tract to prevent infections

Action
- Hairs in nostrils can filter large dust particles

- Respiratory tract is lined with ciliated epithelium consisting of mucus-secreting cells and ciliated cells
- Epithelial cells are closely packed to act as a physical barrier
- Mucus-secreting cells produce mucus to trap pathogens and dust particles in inhaled air
- The mucus and trapped pathogens are swept towards the throat by the beating action of cilia
- The mucus is then swallowed or coughed out as sputum 痰

B. Chemical Barrier
- Chemical barriers are chemical secretions produced by the human body to kill or inhibit the growth of
pathogens
- They include:

○1 Sebum 皮脂
- Sebum is an oily secretion secreted by sebaceous glands of the skin
- It contains chemicals that kill certain pathogens

○2 Tear and Saliva 口水

- Tears are secreted by tear glands and saliva is secreted by salivary glands
- Both tear and saliva contain an enzyme called lysozyme
- This enzyme catalyses the breakdown of the cell walls of certain bacteria and kills them
- Tear also wash away the pathogens and dust particles trapped on the surface of eyes

○3 Gastric juice
- Gastric glands of the stomach wall secrete gastric juice which contains hydrochloric acid
- The acid kills most pathogens

○
4 Vaginal secretion
- Vagina produces an acidic secretion that inhibits the growth of pathogens in vagina
 C. Blood clotting
- if a blood vessel is damaged, blood leaks out and is lost through the wound

- Our body can stop the bleeding by forming a blood clot to seal the wound
- This process is called blood clotting
- It i) reduces blood loss and ii) prevents pathogens from entering our body through a wound on the skin

- Blood clotting is a complex process involving a chain of reactions that occur one by one
- The process starts when a blood vessel is damaged, the platelets are attracted to the wound
- Platelets and the injured tissues release substances into blood to convert a soluble plasma protein fibrinogen
into insoluble fibrin
- Fibrin is a thread-like protein fibre
- Fibrin forms a network to trap red blood cells, platelets and pathogens
- These trapped substances together form a blood clot
- The blood clot dries and hardens after some time and becomes a scab

Process of Blood clotting/scabbing:

○
1 When a blood vessel is damaged, platelets are attracted to the wound
○
2 Platelets and injured tissues releases substances into blood to convert soluble fibrinogen into insoluble fibrin
○
3 Fibrin forms a network to trap red blood cell, platelets and pathogens to form a blood clot
○
4 The blood clot dries and hardens to become a scab
 D. Phagocytosis 吞噬作用
- When pathogens enter the body through a wound, white blood cells called phagocytes are attracted to the
wound and they squeeze out of capillaries
- Phagocytes engulf pathogens by phagocytosis and digest them with enzymes

E. Inflammatory Response
- Inflammation is a rapid response to tissue damage (e.g. a cut, an insect bite, burns or infection by pathogens)
- Mast cell within the damaged tissues release a chemical called histamine to initiate the inflammatory
responses

Process:

All inflammatory responses have the same typical signs: [紅腫熱痛]

- Redness – Histamine causes the arterioles near the wound to dilate (vasodilation). This increases blood flow
to the wound so that more phagocytes are brought to the wound

- Swelling – Histamine increases the permeability of capillary walls. More blood plasma and phagocytes are
forced into the wound. Tissue fluid accumulates at the wound, hence the wound becomes swollen

- Heat – The increased blood flow also brings more heat to the wound

- Pain – The swollen tissues press on and stimulate pain receptors in the skin
Specific Defence Mechanisms
- Sometimes pathogens overcome the non-specific defence mechanisms (i.e. first and second lines of defence)
- When this happens, our immune system [the last line of defence] is activated to produce immune responses
to destroy pathogens

- Antigens are substances that stimulate immune responses

- They are present on cell surfaces for recognition
- Each antigen has a specific shape
- Certain white blood cells called lymphocytes can recognise foreign antigens of pathogens, infected cells,
cancer cells, toxin etc. as invaders and initiate immune responses to destroy them

- There are two main types of lymphocytes that can produce immune responses: B cells (B lymphocytes) and T
cells (T lymphocytes)

1. B cells [Humoral Immunity]

- B cells are produced and mature 成熟 in the bone marrow
- As B cells matures, antigen receptors of special shapes are formed on its cell surface
- All the antigen receptors on a B cell are identical and fit only to a specific antigen
- There are different types of B cells that are specific to different antigens which may enter our body
- Mature B cells circulate around the body or may be stored in lymph nodes

Production → Maturation → Circulation

When B cells detect free pathogens present in body fluids (e.g. blood)
- When the antigen receptors on B cells come into contact with specific antigens, the B cells are stimulated to
multiply and differentiate into plasma cells and memory B cells

➢ Plasma cells produce specific antibodies to act against particular pathogens

➢ Memory B cells are responsible for immunological memory. When the same antigen enters the body
again, memory B cells and initiate specific immune response more quickly

(i.e. When same antigen enters body again, memory B multiply and differentiate into plasma cells to
produce antibodies rapidly)
Humoral Response

Antibodies and Their Actions

- Antibody is a Y-shaped protein molecule with two identical antigen-binding sites
- The shape of these biding sites is specific to a particular antigen only
- This allow the antibody to combine with a specific antigen to form an antigen-antibody complex
- The production and action of antibodies are highly specific
- An antigen stimulates the production of a type of antibody that combines with that antigen only

The shape of this antigen does not fit

the antigen-binding site

The shape of this antigen

matches the shape of
the antigen-binding site.

They form an antigen-

antibody complex
 Antibodies act against pathogens in the following ways:

○1 Lysis
- Antibodies can attach to antigens of pathogens and make holes in the surfaces of pathogens
- The pathogens are lysed (burst open) and killed

○2 Enhanced phagocytosis
- Antibodies bind to antigens of pathogens
- This helps phagocytes to detect pathogens more easily and hence facilitates phagocytosis

○3 Clumping of pathogens
- Some antibodies may cause pathogens to clump together
- This prevents them from multiplying or entering body cells due to their larger size

○4 Antitoxin
- Some antibodies combine with toxins secreted by pathogens and neutralise them, making them harmless
- Antibodies that can neutralise toxins are called antitoxins
2. T cells [Cell-mediated Immunity]
- T cells are produced in the bone marrow
- The immature T cell move to the thymus gland and mature there
- Similar to B cells, each T cells has receptors on its surface that fits a specific antigen
- Mature T cells then circulate around body or stored in lymph node

Production → Maturation → Circulation

- T cells recognise the antigens present of surface of infected cells and cancer cells
- They are activated when their receptors match with a specific antigen
- Activated T cells can differentiate into different types [Helper T cells, Killer T cells and Memory T cells] for
different purposes

When a helper T cell detects infected cells or cancer cells, it releases chemicals called lymphokines to activate

- ○
1 More T cells to multiply and differentiate into killer T cells and memory T cells

Killer T cells bind to antigens on the surfaces of infected cells or cancer cells and destroy them directly.

Memory T cells are responsible for immunological memory.

- ○
2 B cells to carry out their immune response
- ○
3 Phagocytes to carry out phagocytosis
 Cell-mediated Response

Primary and Secondary Response

- Why we catch certain diseases only once and never get it again?
- For instance, after recovering from chickenpox, you will never get it again
- You are immune to chickenpox since
- This is due to the specificity and memory of immune responses

1. Primary Response
- Primary response is the immune response initiated by the first exposure to an antigen

- When an antigen enters the body for the first time, only a few specific lymphocytes can recognise it
- It takes time to these lymphocytes to come into contact with the antigen and to produce antibodies
- Therefore, primary response is slow and there is a latent period of several days before the antibody
concentration in the blood begins to rise
- As lymphocytes multiply, the antibody concentration gradually rises to a peak
(This usually takes one to two weeks)

During primary response

- The person may develop disease symptoms as the immune response is not fast enough to stop the pathogen
from causing harm to the body
2. Secondary Response
After primary response
- Memory cells (Memory B cell and Memory T cell) for the particular antigen are produced and they can last for
years

When the same antigen enters the body again

- Memory cells can quickly recognise the antigen and produce a secondary response
- Memory cells multiply and differentiate quickly into a large number of plasma cells and killer T cells
- The plasma cells produce a large number of antibodies within a short time while
- Killer T cells destroy the infected cells directly

The secondary response is faster, stronger and lasts longer than primary response
- When the pathogens are killed before they can multiply and cause harm, our body is said to be immune to
the pathogen

Primary Response Secondary Response

Occurs when a antigen enters the body Occurs when the same antigen enters
Occurrence
for the first time the body again

A longer latent period A shorter latent period

Duration of latent period
(slow response) (faster response)

• Production of antibodies is slower • Production of antibodies is faster

• Amount of antibodies produced is • Amount of antibodies produced is

Response smaller larger

• Antibody concentration in blood • Antibody concentration in blood

declines quickly declines slowly
Duration of protection Lasts for a short period of time Lasts longer
 Active and Passive Immunity
- Immunity refers to the ability of the body to resist pathogens which may cause a disease
- Our body can acquire immunity through various ways

- The immunity provided by antibodies that are produced by our own body is called active immunity
- The immunity provided by antibodies that are transferred from other people or sources is called passive
immunity

1. Active Immunity
- Active immunity is acquired naturally after you have caught a disease and recovered

- Active immunity can also be acquired artificially through vaccination

- A vaccine is a dose of weakened or killed pathogens or its antigens

After vaccination
- Antigens in the vaccine stimulate primary response and memory cells for the particular antigen are produced
- On subsequent exposure to the same antigen, the memory cell can initiate secondary response quickly,
leading to the production of a large amount of antibodies and killer T cells within a short time

- As memory cells are produced, active immunity lasts for a long time
- However, active immunity takes time to develop and therefore cannot provide immediate immunity

2. Passive Immunity
- Passive immunity can be acquired naturally through the transfer of antibodies from mother’s blood to
foetus’ blood across the placenta during pregnancy
- Breast feeding can also provide passive immunity to the infant
- Breast milk contains antibodies which are transferred to infant during breast feeding

- Artificially, serum 血清 that contains a high concentration of ready made antibodies is injected into a
person’s body to provide immediate immunity
- It is often used to treat acute diseases and poisoning

- However, passive immunity is short-lived as the body does not develop memory cells
- The concentration of injected antibodies in blood will gradually fall as the antibodies are used up or broken
up
 Active Immunity Passive Immunity
Antibodies are produced by the Ready made antibodies are transferred
Production of antibodies
immune system into the body

Takes time to develop and thus does

Onset of immunity Provides immediate immunity
not provide immediate immunity

Duration of protection Lasts for a long time Short-lived

• Naturally: Recover from a disease • Naturally: From mother to
• Artificially: Vaccination foetus/infant through placenta or
How to acquire breast feeding
• Artificially: Injection of serum
Ch 27 Basic Genetics

Genetics
- Genetics is the scientific study of heredity and variations in organisms

- Children look like their parents in some ways because they get their in-born characteristics from their
parents
- The passing on of characteristics from parents to offspring is called heredity
- On the other hand, we develop certain characteristics (e.g. height and body weight) which may be different
from our parents
- The differences in characteristic among individuals of a species are called variations

Chromosomes, Genes and Nucleic Acids

- Inherited characteristics are passed from parents to offspring through genes

In Ch12
- We learned that inside the nucleus of a cell, there are thread-like structures called chromosomes
- Chromosomes are made up of the genetic material DNA [deoxyribonucleic acid]
- A gene is a length of DNA, which is a sequence of nucleotide bases located on a particular chromosome

Genetic material [DNA + histone]

- Not during cell division: Chromatin 染色質
- During cell division: Chromosome 染色體

Gene
- Genes are the basic unit of heredity
- The sequence of bases on a gene provides the genetic code or instructions for making a particular
polypeptide or protein
- Protein serve various functions in our body, including

○
1 Enzymes for catalysing chemical reactions in cells

○
2 Hormones for regulating metabolism

○
3 Membrane proteins (e.g. channel proteins and carrier proteins) for controlling the transport of substances
across differentially permeable membranes

○
4 Structural protein for making new cells
- Gene can control the amount and types of proteins made, so can determine the characteristics (or traits) of
an organism
- Each inherited characteristic is controlled by one or several genes
- The position of a gene on a chromosome is called a locus (plural: loci)

Allele
- A gene may have two or more alternative forms
- Each form is called an allele
- The alleles of any given gene lie at the same locus of both members of homologous chromosomes

Nucleic Acid

In Ch2
- We learned that DNA and RNA are two types of nucleic acids
- This part will focus on the structural and functional relationships of DNA
- RNA and its role in protein synthesis will be discussed in Ch28

Structure of DNA
- DNA consists of two long chains of nucleotides (polynucleotide chains) with a sugar-phosphate backbone
made up of sugars (deoxyribose) and phosphate groups joined together
- These two strands run in opposite directions to one another and are twisted to form a double helix

- Attached to the deoxyribose sugar of each nucleotide is one of the 4 nitrogenous bases:
- Adenine (A), thymine (T), guanine (G), cytosine (C)
 Complementary base pairing
- A of one chain always pairs with T of another chain, forming two hydrogen bonds
- C pairs with G, forming three hydrogen bonds
- This is called complementary base pairing

How is the DNA structure adapted to its function

- The structure of DNA makes it an ideal genetic material
- The base sequence is an example of information storage
- The information is in the form of genetic code to make proteins
- Since DNA molecules are long, a large amount of information can be stored

DNA is a stable molecule

- It has ○1 strong sugar-phosphate backbone
- The ○2 hydrogen bonds between the double helix maintains the two strands and give the molecules further
stability

DNA replication
- It is essential that DNA can replicate (copy) itself accurately before cell division so that identical genetic
information can be passed to the new cells formed
- This is made possible by complementary base pairing
 Monohybrid Inheritance
- Long before the discovery of DNA, people had observed that certain characteristics can be passed on from
parents to offspring

Selective Breeding
- For thousands of years, people have made use of this concept to breed animals or plants selectively for the
production of offspring with desirable characteristics
- However, the science behind heredity of these characteristics remained unknown until early 20th century

Gregor Mendel’s Experiments

- Gregor Mendel (1822-1884) was one of the first people who studied heredity in a scientific way
- He carried out a series of breeding experiments on pea plants (Pisum sativum)
- He studied several characteristics of pea plants and proposed hypotheses for explaining heredity of these
characteristics

Contrasting Characters in Pea Plants

Mendel’s breeding experiments on Monohybrid Inheritance [Monohybrid cross]

- Mendel crossed pure-breeding tall plants with pure-breeding short plants
- The seeds resulting from this cross were collected and sown 播種

It was found all F1 generation* plants were tall

*F1 generation = the first filial generation

- Then the F1 tall plants were allowed to self-pollinate

- Seeds of these F1 plants were collected and sowed to produce the second filial generation (F2 generation)

Phenotype Ratio of tall plants to short plants in F2 was about 3:1

Process:
1. What can you conclude about the F1 offspring produced from the pure-breeding parents?

- F1 offspring showed one of two contrasting characters

- They did not show a ‘blending’ of characters of the parents

2. What is the monohybrid ratio?

- 3:1

Mendel’s Interpretation of the Experimental Results

Results of the above monohybrid crosses reveal that
隔代遺傳
- Only one of the two contrasting characters was shown in the F1 generation. The other contrasting character
was hidden
- The hidden character reappeared in the F2 generation and the ratio of the two characters in offspring was
always about 3:1

No blending
- F1 offspring were not intermediate between the two parental varieties. This suggests that there was no
blending or mixing of the characters

All Dominant and No Recessive Expression in F1

- As only one of the characters (e.g. tallness) was shown in the F1 generation, Mendel assumed this character
was dominant to the other
- The character which did not express itself in the F1 generation (e.g. shortness) was said to be recessive
 Mendel attempted to explain his finding in the following ways:
- Each inherited characteristic is determined by a pair of hereditary factors

- Each pure-breeding parent has two identical hereditary factors.

o For example, a pure-breeding tall plant has two factors for tallness and a pure-breeding short plant
has two factors for shortness

- The hereditary factors separate during gamete formation, so each gamete produced by the parents carries
only one of the pair of hereditary factors

- Fertilisation of gametes from the two parents produces the F1 generation which has one factors from each
parent.
o For example, each F1 plant receives one factors for tallness, and one factor for shortness

- In F1 generation, only the effect of the dominant hereditary factor (e.g. the factor for tallness) is expressed

- Nevertheless, the F1 generation can produce two types of gametes that contain either of the two hereditary
factors

- With random fertilisation of the gametes from F1 plants, both factors can be expressed in the F2 generation

Mendel’s first law [Law of Segregation]

- The above ideas are summarised into the hypothesis known as Mendel’s first law (or the Law of Segregation)

Law of Segregation:
During gametes formation, separation (segregation) of each pair of hereditary factors occurs so that each gamete
receives only one factor from each pair

Modern Interpretation of Mendel Monohybrid Crosses

Naming hereditary factor ‘Allele’

- Mendel know nothing about DNA or meiotic cell division at his time
- In fact, ‘hereditary factors’ are alleles of the same gene, which exist in pairs and located on same locus on a
pair of homologous chromosomes

Term Meaning Example

The genetic makeup of an organism
Genotype TT, Tt, tt
- It describes the alleles each cell has for a certain characteristic
Phenotype The observable characteristic of an organism Tallness, shortness

The condition in which the genotype of an organism has two identical

Homozygous TT, tt
alleles for a particular characteristic

The condition in which the genotype of an organism has two different

Heterozygous Tt
alleles for a particular characteristic

A dominant allele can express its effect whether in homozygous or

Dominant TT, Tt Tallness
heterozygous condition [In capital letter]
A recessive allele can express its effect only in homozygous condition
Recessive tt shortness
[In small letter]

[Genetic Diagram]
 Cross between Parents
Let T be the allele for tallness
Let t be the allele for shortness
- A pure-breeding tall pea plant has two alleles
for tallness in each cell and its genotype is TT
- A pure-breeding short pea plant has two alleles
for shortness in each cell and its genotype is tt
- Both are homozygous for the gene of stem
length
Cross between F1
- All F1 offspring have one allele for tallness (T)
and one allele for shortness (t)
- Their genotype is Tt and heterozygous
i.e. They are heterozygotes
- All are tall as allele T is dominant
- During gamete formation by meiotic cell division,
each pair of the homologous chromosomes
separates, so do the pair of alleles controlling
same characteristics
- As a result, each gamete receives only one allele
from each pair
- Thus all gametes produced by the pure-breeding
tall pea plant (TT) contain the allele T, while all
gametes produced by the pure-breeding short
pea plant (tt) contain the allele t
- F1 offspring can produce gametes containing
either allele T or allele t
- When F1 offspring cross (Tt x Tt), their gametes
combine randomly during fertilisation
- There are four possible combinations of gametes
- Monohybrid ratio of tall to short offspring in F2
is 3:1
 [Punnett Square]

- The above cross produces offspring with three different genotypes, LL, Ll and ll in the ratio of 1:2:1
- This results in both phenotypes, long wings and vestigial wings
- The expected phenotypic ratio is 3:1, which can predict the proportion/probability of offspring with a certain
genotype or phenotype

However
- it should be noted that genetic diagrams and Punnett squares only give the expected results of crosses
- In reality, the observed results might not match perfectly with the expected results
- Usually larger the number of offspring produced, closer the observed results match the expected result
[A bigger sample size]

Identifying the Genotype of An Organism

- For an organism showing a dominant character, its genotype can be homozygous or heterozygous
- In this case, we can carry out a breeding experiment called test cross to confirm its genotype

Method
- In test cross, the organism (with unknown genotype) is crossed with an organism with the corresponding
homozygous recessive character
- E.g. To find out the genotype of a fruit fly with long wings, we can test cross with it a fruit fly with vestigial
wings

Case 1: The fruit fly is homozygous (LL)

- All offspring produced have dominant character (long wings)

Case 2: The fruit fly is heterozygous (Ll)

- Half of the offspring have dominant character and half have recessive character
- Expected ratio of offspring with dominant character to recessive character is 1:1
 Dihybrid Inheritance
- Mendel also study simultaneous inheritance of two pairs of contrasting characters
- This kind of inheritance is called dihybrid inheritance

In His Experiment
- He studied inheritance of the seed shape (round or wrinkled) and seed colour (yellow or green) in pea plants
- From monohybrid crosses, he knew that round seeds and yellow seeds are dominant characters over
wrinkled seeds and green seeds
- He crossed pure-breeding pea plants with round and yellow seeds with pure-breeding pea plants with
wrinkled and green seeds

It was found that all F1 seeds were round and yellow

- He then planted F1 seeds and allowed the F1 plants to self-pollinate

Phenotype ratio of round and yellow: round and green: wrinkled and yellow: wrinkled and green in F 2 = 9:3:3:1

______________________________________________________________________________________

______________________________________________________________________________________

Interpretation of Mendel’s Experimental Results

- Based on the results of his dihybrid crosses, Mendel put forward his second law, the Law of Independent
Assortment

Law of Independent Assortment:

It states that the separation of alleles for one gene is independent of the separation of alleles for other genes
during gamete formation
 It states that
- Any one pair of contrasting characters may combine (assort) with either one of the another

With our present knowledge of genetics, this law cold be interpreted in this way:
- During gamete formation, alleles for one gene separate independently of the alleles for another, so that each
member of an allele pair may combine randomly with either one of another pair

- Independent assortment can only occur when the genes of the characteristics concerned are carried on
different chromosomes

- The random assortment of homologous chromosomes and the subsequent separation lead to a variety of
allele combinations in gametes
Identifying Genotype of An Organism with Two Dominant Characters
 Linkage
- Normally, Mendel’s Law of Independent Assortment states the inheritance of a pair of allele is independent
of another pair
- But if the genes for the two characters are on the same chromosomes, they are linked
- Hence the alleles for the two characters cannot segregate during gamete formation
 Co-dominance
- Blood groups are inherited from our parents like eye colour and other hereditary characteristics
- The most well-known blood group system in human is ABO system
- There are four different blood groups: A, B, AB, O
- It is determined by the presence of absence of antigens (antigen A and B) on the surface of red blood cells

Blood groups
- If antigen A is present, it is blood group A
- If antigen B is present, it is blood group B
- If both antigens A and B are present, it is blood group AB
- If both antigens are absent, it is blood group O
- The production of antigen on red blood cells is controlled by a gene, represented as I

Gene
- IA causes the production of antigen A
- IB causes the production of antigen B
- i causes no production of antigens

Co-dominance
- These alleles are multiple alleles
- Any two of these alleles may occur at the same locus on the homologous pair
- Allele combination IA and IB results in production of both antigens
- These two alleles are co-dominant (i.e. they jointly 聯合地 express their effects in the individual)

Antibodies
- Normal healthy people make antibodies against antigens A or B if they are not present in their red blood
cells
- For example, people with blood group A have antigen A on RBCs, so anti-A antibody is not produced because
they would destroy their own blood
- But as they do not have antigen B, anti-B is produced
 Sex determination
- In humans, sex determination depends on the inheritance of sex chromosomes
- Every human cell contains 23 pairs of chromosomes
- 22 pairs are called autosomes and the remaining pair is called sex chromosome
- Female: Two X chromosomes
- Male: One X chromosome + One Y chromosome

- In female, the two sex chromosomes have the same length and appearance
- In male , one sex chromosome is longer and the another [Y chromosome] is shorter

During gamete formation

- Ovum contains 22 autosomes and 1 X chromosome
- Sperm contain 22 autosomes and 1 X/Y chromosome

After gamete fusion

- The type of sex chromosome [X/Y] of the sperm that fuses with ovum during fertilisation determines the sex
of the child
- If the ovum fuses with a sperm with X chromosome, the resulting zygote would have a XX genotype and
develop into a girl
- If the ovum fuses with a sperm with Y chromosome, the resulting zygote would have a XY genotype and
develop into a boy

- Since the two types of sperms are formed in equal proportion in male testes, and fertilisation is a random
process, there is an equal chance (i.e. 50%) of having a boy or a girl for each birth
Inheritance of Sex-linked Characteristics
- Sex chromosomes do not just determine sex of an organism, they also carry genes that control body
characteristics
- Those genes located on the sex chromosomes are known as sex-linked genes
- Characteristics controlled by them are sex-linked characteristics

- Some genetic disorders in human are associated with sex-linked genes

- Two well-known examples are red-green colour blindness and haemophilia

1. Red-green colour blindness

- People with red-green colour blindness have difficulty in distinguishing red colour and green colour
- Red-green colour blindness is more common in males than females
- This is because the gene for red-green colour blindness is located on X chromosomes (X-linked) but is absent
in Y chromosome
- Females need two X chromosomes with allele for colour blindness to express red-green colour blindness, but
males only need one X chromosome

Allele for normal vision (B) is dominant, and allele for colour blindness is recessive
2. Haemophilia 血友病
- Haemophilia is a genetic disorder in which the blood does not clot properly because the affected person
cannot make an essential blood-clotting factor

Problems
- This leads to slow and persistent bleeding from even a small wound
- Also, if people with haemophilia injure themselves, they suffer from internal bleeding as a result of normal
activity

Treatment
- However, they can usually live an active life by regular injections of the blood-clotting factor

Inheritance
- Like colour blindness, haemophilia is caused by a recessive allele on the X chromosome

Studying Inheritance in Humans

- To study inheritance in humans, we can obtain information about inheritance by studying a pedigree
- By analysing a pedigree, we can trace the inheritance of certain characteristics in a family and work out the
possible genotypes of family members
- We can also predict how likely a certain characteristic will occur in the next generation

○
1 As individual 4 has straight little fingers, he must receive at least 1 allele for straight little fingers from either
parents (individuals 1 or 2)

○
2 As both his parents have curved little fingers, both of them must have at least 1 allele for curved little fingers

○
3 Therefore, at least one parent is heterozygous

○
4 As only dominant character is shown in heterozygous condition

○
5 Curved little finger is the dominant character

Variation in Characteristics
- Members of the same species share some common characteristics that distinguish them from other
organisms
- For example, Homo sapiens, all walk upright, have both eyes pointing forwards, some hair but not as much
as other mammals and our brain is relatively large
- Nevertheless, no two people look exactly the same. Even identical twins differ in some ways
 The difference in characteristics among individuals of the same species are called variations

1. Continuous Variation
- Continuous variation describes quantitative difference where there is ○
1 a continuous range of intermediate
values between two extremes
- Human characteristics showing continuous variation include height, weight, foot length, intelligence quotient
(IQ)
- These characteristics are the ○
2 combined effects of many genes acting together and ○ 3 environmental
factors

- The frequency distribution for a continuous variation can be represented by a histogram

- If we join the mid-points at the top of each bar with a smooth line, it is a bell-shaped curve
- This is known as a normal distribution curve

- Most individuals fall in the middle of the range with approximately equal numbers on either side
- This is one of the characteristic features of continuous variation

2. Discontinuous Variation
- Discontinuous variation describes the kind of variation that falls into a few clearly distinguishable categories
with ○
1 no intermediate forms
- For example, people either have free ear lobe or attached ear lobes; some can roll their tongues while
others cannot
- Human blood groups and sex are also examples of discontinuous variation
- Discontinuous variations are ○
2 usually controlled by one gene and are ○ 3 relatively unaffected by the
environment
 Cause of Variations
- Some variations within a species are caused by heredity and some are caused by the environment
- There are also combined effect of both

1. Heredity
- Variations caused by heredity are called genetic variations
- Organisms produced by asexual reproduction are generally identical to their parents
- On the other hand, organisms produced by sexual reproduction show considerable genetic variations
- Some sources of genetic variations are discussed below

Independent assortment of chromosomes at meiosis

- During meiosis, random separation of homologous chromosomes and the subsequent independent
assortment of chromosomes result in gamete with different combinations of alleles

Crossing over
- During meiosis, homologous chromosomes exchange corresponding sections of DNA, by breaking and
rejoining of chromatids
- This produces new combinations of alleles in gametes formed

Random fertilisation
- Male and female gametes with different genetic makeup fuse together randomly during fertilisation
- This produces offspring with different combinations of alleles and characters

Mutations
- Sometimes genetic material may undergo a sudden and permanent change [It is called a mutation]
- This may lead to a change in phenotype due to production of a new protein or failure to produce a
normal protein
- An organism with phenotypes changed by a mutation is called a mutant

- Mutation in somatic cells do not affect its offspring while mutation in gametes or gamete-producing
cells can be passed to future generation

2. Environmental factors
- Even identical twins with the same genotype may vary in some characteristics
- This is especially true if they grow up apart
- The different environments affect their physical, social and intellectual development in different ways

Environmental factors can affect the expression of certain genes:

Skin colour
- In humans, skin colour is primarily determined by genes that control production of skin pigment [melanin 黑
色素]
- If constant exposure to sunlight, a person’s skin will become darker

Chlorophyll production
- Light affects the production of chlorophyll in plants
- Although they have the genes for producing chlorophyll, when grown in darkness, plants cannot produce
chlorophyll

Vestigial wings
- In fruit flies, allele for vestigial wing (l) is recessive to allele for long wing (L)
- However, the expression of allele for vestigial wings only expressed affected at low temperature at which the
larvae develop
- Fruit flies that are homozygous recessive for vestigial wing will develop vestigial wings at 21oC but long wings
at 31oC
Ch28 Molecular Genetics

DNA [Deoxyribonucleic acid] RNA [Ribonucleic acid]

- 5-C sugar: Deoxyribose - 5-C sugar: Ribose
- Nitrogenous base: A, T, G, C - Nitrogenous base: A, U, G, C
- ○ P : Phosphate group - ○
P : Phosphate group

Structure of Nucleic Acid

- Basic unit: Nucleotide

Characteristics of DNA as Genetic Code

○
1 Triplet code
- A sequence of three nucleotide bases code for one amino acid

○2 Degenerate code
- Some amino acids are produced by more than one code
- For example, mRNA codons GGA, GGU, GGC, GGG all code for the amino acid glycine

○3 Non-overlapping
- The genetic code is read in a sequential manner and non-overlapping

○4 Universal
- The same triplet code codes for the same amino acid in almost all organisms

○5 Commaless
- Each triplet code is immediately adjacent to the next, without any break in-between

○6 ‘Start signals’ and ‘stop signals’

- Some triplet codes act as ‘start signals’ for initiation of polypeptide synthesis and some triplet codes act as
‘stop signals’ do not code for amino acids but mark the end-point of a gene
 Process of Protein Synthesis
- Gene expression is the process the genetic code of a gene is used to direct protein synthesis
- The resulting protein is called a gene product

- Genes are located on DNA molecules in cell nucleus

- To synthesise a protein, the genetic information is carried from nucleus to cytoplasm in form of mRNA
[messenger RNA] because DNA molecules are too large to leave the nucleus through nuclear pores
- In cytoplasm, the protein is assembled by interpreting the mRNA

Protein Synthesis

1. Transcription – Genetic information is copied

from the DNA to messenger RNA (mRNA) in the
nucleus

2. Translation – mRNA directs the synthesis of a

particular polypeptide in cytoplasm
A. Transcription: DNA to mRNA

Process:

○1 Unwinding of DNA double helix

- An enzyme called RNA polymerase binds to a region of DNA that signals the start of a gene
- Hydrogen bonds between bases of two strands break. This causes the double helix to unwind
- Only the template strand is used for synthesis of complementary mRNA. (The other DNA strand is called the
coding strand)

○2 Free RNA nucleotides bind with complementary bases in template strand

- RNA polymerase moves along the template strand, free RNA nucleotides in nucleus bind with
complementary bases in template strand
- RNA polymerase catalyses the formation of an mRNA strand (by joining RNA nucleotides together)

○3 mRNA strand is released and DNA rewinds

- The mRNA strand is released. It leaves the nucleus and enters the cytoplasm through nuclear pores on
nuclear membrane
- The two DNA strands rewinds to form double helix

In transcription
- Every triplet code on DNA strand is transcribed into a complementary three-base sequence, called codon, on
mRNA
- For example, the DNA triplet code GAT will be transcribed into the codon CUA on mRNA (which codes for
amino acid Leucine)
- Each codon codes for a specific amino acid, except stop codons which acts as stop signals.
B. Translation: mRNA to Proteins
- During translation, a specific sequence of amino acids is decided by the codon sequence on mRNA, and is
formed to make polypeptides
- This occurs at ribosomes which can be i) free in cytoplasm or ii) on the surface of rough ER [rough
endoplasmic reticulum]

tRNA
- Translation also requires a type of RNA called tRNA, which is transfer RNA

Features
- ○1 It is single-stranded
- ○2 It is held by hydrogen bonds formed between base pairs forming a
clover shape
- ○3 It has anticodon, which is a sequence of three bases which decides what
amino acid the tRNA carries
- ○4 It has a binding site for amino acid

Process:

○1
- mRNA moves out from nucleus to cytoplasm and binds to a ribosome
- The first tRNA with anticodon UAC binds to the start codon AUG

- tRNA carries a specific amino acid to the ribosome

- Start codon (AUG) is always for the first codon on mRNA, hence it attracts the tRNA with the
anticodon UAC and they bind together

○2
- A second tRNA carrying another amino acid binds to the next codon on mRNA with its complementary
anticodon
- The two amino acids are joined by peptide bond to form a dipeptide

○3
- The ribosome moves along the mRNA, adding one amino acid at a time

○4
- Finally, the ribosome reaches a stop codon on mRNA and the polypeptide is released
- The polypeptide may then coil and fold to form a protein. In some cases, several polypeptides combine to
form a protein
mRNA → Amino acid
 Mutation
- A mutation is a sudden and permanent change in the amount, arrangement or structure of the genetic
material of an organism
- This produces a change in the genotype which may result in the failure to produce a normal protein,
leading to a subsequent change in the phenotype

- Mutations in body cells (i.e. somatic cells) will be passed to their daughter cells through mitosis
- It affects only the individual carrying the affected genetic material, but the change will not be inherited
to the next generation
- Alternatively, mutations occurring in gamestes are inheritable and will affect future generations

Types of mutation
A. Gene Mutations
- A gene mutation invovles a change in the base sequence of the DNA in a gene
- This type of mutation can be caused by errrors in base pairing during DNA replication

- The base sequence can be changed by a susbtitution, an inversion, a deletion, or an insertion of base(s) in the
DNA
- The change in base sequence is transmitted to mRNA during transcription and may result in a change in
amino acid sequence of polypeptide formed during translation

Substitution, Inversion
- A substitution or inversion of bases usually leads to change in one codon only
- This may result in a differment amino acid in polypeptide

- So its effect can be variable

- A change in one amino acid may not have a signitificant effect if it occurs in a non-critical area
- However, if the change occurs at an important site that it alters the structure of the protein (e.g. active site),
the protein may become non-functional

Deletion, Insertion
- Since the genetic code is a triplet code read in a non-overlapping manner, deletion or insertion of one or
more bases will shift the reading frame (the grouping of bases)

- This kind of mutation is frameshift mutation

- This can cause the reading of codons after the point of mutation to code for an entirely different sequence of
amino acids
- The resulting poplypeptide or protein is non-functional

Substitution, Inversion Deletion, Insertion

- Frameshift mutation
- Code for one different amino acid in - Code for an entirely different
the sequence sequence of amino acid after point
- If occurs at active site, it may be a non- of mutation
functional protein - Non-functional protein
Example: Sickle-cell anaemia 鐮狀細胞貧血
- Sickle-cell anaemia is a genetic disorder that affects the protein haemoglobin 血紅蛋白
- A haemoglobin molecule consists of four polypeptide chains
- Sickle-cell anaemia is caused by a base substitution in the gene that codes for one polypeptide chain

- In the mutant gene, base T is repalced by base A at one position

- Thus the polypeptide made has one different amino acid – valine (Val) instead of glutamic acid (Glu)

Effect
- The single change in amino acid sequence affects the structure and properties of haemoglobin formed

○1 Blocking blood vessels

- The abnormal haemoglobin molecules will form rod-like fibres at low oxygen concentrations
- This causes red blood cells to become sickle-shaped
- These sickle-shaped cells can block blood vessels easily

○2 Anaemia
- Also, these abnormal RBCs have a short life span
- Therefore, patients cannot make red blood cells rapidly enough to replace the detective cells that has broken
down
- This leads to anaemia (i.e. lowered ability to carry oxygen)

Normal RBC cell shape: Biconcave disc shape (雙凹盤狀)

B. Chromosome Mutations
- A chromosome mutation may involve a change in the structure or number of of whole chromosomes
- Chromosome mutations may affect many genes and usuallly have a greater effect on the phenotype than
gene mutation
(a) Change in Structure of Chromosomes

Deletion
- The loss of a region of a chromosome
- This results in a chromosome becoming deficient in certain genes

Duplication
- A region of chromosome becomes duplicated (repeated)
- So that an additional set of genes exists in that region

Inversion
- A region of chromosomes breaks off and is inverted before rejoining
- The normal sequence of genes is thus reversed

Translocation
- A region of a chromosome breaks off and becomes attached to a non-homologous chromosome
- Reciprocal translocation between two non-homologous chromosomes involves an exchange of genes and
produces two chromosomes with genes compositions different from the original ones

(b) Change in Number of Chromosomes

- Cause: Errors in meiotic cell division during gamete formation

- Sometimes, homologous chromosomes or sister chromatids fail to seaparte (i.e. non-dysjunction) and they
move together to the same gametes
- Then, some of the gametes formed will have two copies of the same chromosome, and some will lack an
entire chromosome
Example: Down syndrome 唐氏綜合症
- Examinations show that a person with Down syndrome has an extra chromosome 21 (i.e. 47 chromosome in
total) in their body cells

Karyotype: Trisomy 21

Gametes formation
- A possible cause is that during gametes formation by meiotic cell division, the two homologous members of
chromosome 21 fail to separate from each other (i.e. non-dysjunction)
- Therefore, both chromosomes 21 are present in the gametes formed
- This is more likely to occur in the ova but may also occur in sperms

Fertilisation
- When the gamete (ova/sperm) containing an extra chromosome 21 fuses with a normal gamete, a zygote
with three chromosome 21 is produced

Symptoms
- Down syndrome is typically associated with ○
1 growth delays
- People with Down syndrome have ○ 2 characteristic facial features, such as a round face, a flattened nose
bridge
- They usually have ○
3 mild to moderate intellectual disability

- Incidence of Down syndrome is about 0.15% of all births

- Reseach shows that the risk of having children with Down syndrome increases with the mother’s age

Example: Turner’s Syndrome (XO), Klinefelter’s Syndrome (XXY)

- Abnormality in the number of sex chromosome
Causes of Mutation

1. Spontaneous mutation
- There are some mutations that occur naturally and randomly, they are called spontaneous mutation
- Spontaneous mutation occurs at a very low rate as organisms have mechanisms to repair some errors

2. Induced mutation – Mutagens

- Nevertheless, mutation rates can be increased by environmental factors called mutagens
- These include certain chemicals and radiations
- Mutation caused by exposure to mutagens are called induced mutations

Chemical mutagens
- Chemical mutagens can increase mutation rates by altering the chemical structure of DNA, e.g. base
sequence

- Examples of chemical mutagens include

o Nitrite in food preservatives (commonly used in cured meat 醃肉 like sausage, ham, bacon)
o Tar in cigarette smoke
o Polycyclic aromatic hydrocarbon (PAH) from combustion of fossil fuels
o Asbestos in construction materials
o Dioxin in chemical waste

Physical mutagens
- They cause formation of highly reactive ions, called free radicals 自由基, which can damage DNA
- Examples:
o High-energy radiation (e.g. X-rays and Gamma rays)
o Ultraviolet radiation

- Ultraviolet radiation is found in sunlight. Prolonged exposure of ultraviolet radiation can result in mutations
in the skin cells and increase risk of skin cancer

Are mutations all bad?

- Mutations can have many harmful effects but sometimes mutation can be beneficial
- They are a source of genetic variation, leading to new characters that help organisms to better adapt to a
particular environment so that they can survive and reproduce
- This provides the basis of natural selection which is the driving force of evolution