26 Basic genetics

26.1 DNA ─ carrier of genetic information

1 Inherited characteristics are determined by genes (基因).

2 Genetic information is carried in DNA (deoxyribonucleic acid 脫氧核糖核酸).
3 DNA and RNA (ribonucleic acid 核糖核酸) belong to a group of large molecules called
nucleic acid (核酸). Nucleic acids are made up of nucleotides (核苷酸).
polynucleotide (多核苷酸)

nucleotide

Key:
phosphate group

5-carbon sugar
nitrogenous base
sugar-phosphate backbone (含氮鹼基)

4 Differences in composition between DNA and RNA:

DNA RNA

Type of sugar Deoxyribose (脫氧核糖) Ribose (核糖)

Type of bases Adenine (A) (腺嘌呤) Adenine (A)

Thymine (T) (胸腺嘧啶) Uracil (U) (尿嘧啶)
Cytosine (C) (胞嘧啶) Cytosine (C)
Guanine (G) (鳥嘌呤) Guanine (G)

Number of polynucleotide Two (double-stranded) One (single-stranded)

chains (strands) in a molecule

5 Watson-Crick model of DNA:

- A DNA molecule consists of two polynucleotide chains. The two chains run in opposite
directions and twist to form a double helix.
- A pairs only with T by hydrogen bonds, and C with G. These rules are called
complementary base pairing (互補鹼基配對).

New Senior Secondary Mastering Biology  Oxford University Press 2015

(Second Edition) -1-
6 Chromosomes are made up of DNA and proteins. A gene is a segment of the DNA molecule on
a chromosome.
7 The base sequence of DNA in a gene determines the amino acid sequence in a polypeptide in
a way called the genetic code (遺傳密碼).
8 A gene can exist in two or more alternative forms called alleles (等位基因). The position of a
gene on a chromosome is called a gene locus (基因位點).
9 DNA is well suited to its function as a genetic material because:
- DNA can carry a large amount of genetic information.
- DNA is a stable molecule.
- DNA can replicate accurately.
10 Replication of DNA:

1 The two DNA stands are held together by 2 The hydrogen bonds break and the two DNA
weak hydrogen bonds between the bases. strands separate.

hydrogen
bonds

3 DNA polymerase (DNA 聚合酶) catalyses the 4 Two identical DNA molecules are formed.
addition of free nucleotides complementary to Each contains an original strand and a new
each template (模板). strand.
free nucleotide new strands

template strands original strands

New Senior Secondary Mastering Biology  Oxford University Press 2015

(Second Edition) -2-
26.2 Mendel’s laws of inheritance
1 Monohybrid inheritance (單基因遺傳) is the inheritance of a single characteristic controlled
by a single gene.
2 Genotype (基因型) is the genetic make-up of an organism. Phenotype (表現型) is the observable
character of the organism.
3 Individuals with two identical alleles for a characteristic are homozygous (純合的) for the
characteristic. Individuals with two different alleles for a characteristic are heterozygous (雜合的)
for the characteristic.
4 The Mendel’s first law of inheritance or Law of Segregation (分離定律) states that during
gamete formation, alleles of a pair separate so that each gamete receives only one allele
from the pair.
5 Genetic diagram (遺傳圖解) showing the results of Mendel’s experiment on monohybrid cross
in pea plants:
tall short
Parents TT  tt

Gametes ○
T ○
t

F1 Tt (tall)  Tt (tall)

Gametes ○
T ○
t ○
T ○
t

F2 TT Tt Tt tt

tall short
Ratio 3 : 1

6 The genotype of an organism with a dominant character can be determined by performing a

test cross (測交) in which the organism of unknown genotype is crossed with a homozygous
recessive organism.
- If all the offspring show the dominant character, the organism is homozygous dominant.
- If the offspring show dominant and recessive characters in a ratio of 1 : 1, the organism is
heterozygous.

New Senior Secondary Mastering Biology  Oxford University Press 2015

(Second Edition) -3-
7 Dihybrid inheritance (雙基因遺傳) is the inheritance of two pairs of contrasting characters
at the same time. It involves two genes on different chromosomes.
8 Mendel’s second law of inheritance or Law of Independent Assortment (獨立分配定律)
states that the separation of alleles for one gene is independent of the separation of alleles for
other genes during gamete formation.
9 Genetic diagram and Punnett square (龐氏表) showing the results of Mendel’s experiment on
dihybrid crosses in pea plants:

- There are 16 possible combinations of gametes when random fertilization of gametes from
the two F1 parents occurs.
- Four phenotypes appear in the F2 generation.

New Senior Secondary Mastering Biology  Oxford University Press 2015

(Second Edition) -4-
26.3 Inheritance in humans
1 Blood groups are determined by the type of antigens (抗原) present on the surface of red blood
cells.
2 The production of antigens A and B is controlled by a single gene with three alleles IA, IB and i.
IA and IB are co-dominant (等顯性) and i is recessive.

Genotype Antigen Blood group

IAIA or IAi A A

IBIB or IBi B B

IAIB A and B AB

ii None O

3 Genes with more than two alternative forms are said to have multiple alleles (多等位基因).
4 Sex in humans is determined by a pair of sex chromosome (性染色體).
- Males have one X chromosome and one Y chromosome.
- Females have two X chromosomes.
5 Males produce equal number of X-bearing sperms and Y-bearing sperms. Females produce
only X-bearing ova.
- A zygote will develop into a girl if the ovum is fertilized by an X-bearing sperm.
- A zygote will develop into a boy if the ovum is fertilized by a Y-bearing sperm.
6 Sex-linked (性連鎖) genes refer to genes located on the sex chromosomes.
7 Red-green colour blindness (紅綠色盲) is an example of an X-linked genetic disorder.

Genotype Phenotype

Female XBXB Normal vision

XBXb Normal vision (carrier of the allele for red-green colour blindness)

XbXb Red-green colour-blind

Male XBY Normal vision

XbY Red-green colour-blind

8 Pedigree (譜系) is used to study inheritance in humans.

New Senior Secondary Mastering Biology  Oxford University Press 2015

(Second Edition) -5-
9 Example: A pedigree showing the inheritance of a six-toed foot in a family:

I Key: male with normal feet

1 2
female with normal feet

male with a six-toed foot

II
3 4 5 female with a six-toed foot

a Since individual 4 has normal feet, he must have received at least one allele for normal feet
from either parent.
b Since individuals 1 and 2 have a six-toed foot, each of them must possess at least one allele
for a six-toed foot.
c From a and b, at least one of individuals 1 and 2 is heterozygous.
d Since only the dominant character is shown in the heterozygous condition, the allele for a
six-toed foot must be dominant. We can deduce that both individuals 1 and 2 are
heterozygous because not all of their children have a six-toed foot.

26.4 Variation in organisms

1 Differences between continuous variation (連續變異) and discontinuous variation (不連續變異):

Continuous variation Discontinuous variation

Number of A continuous range of intermediate A few distinct phenotypes with no

phenotypes phenotypes between two extremes intermediates

Representative A normal distribution curve Nil

curve

Example Height, weight, skin colour, hand span Ability to roll the tongue, free
earlobes or attached earlobes, shape
of hairline, straight thumb or
hitchhiker’s thumb

2 Variations in organisms occur as a result of heredity and / or effects of the environment.

3 Genetic variations occur as a result of:
- independent assortment of chromosomes at meiosis
- crossing over at meiosis,
- random combination of gametes during fertilization
- mutations (突變).
New Senior Secondary Mastering Biology  Oxford University Press 2015
(Second Edition) -6-
 27 Molecular genetics

27.1 From DNA to proteins

1 Features of the genetic code (遺傳密碼):
- Each genetic code is a triplet code (三聯體密碼). It is made up of three consecutive bases on
the DNA strand.
- The genetic code is degenerate (簡併的) (i.e. some codes code for the same amino acid).
- The genetic code has no gaps and is read in a non-overlapping manner.
- The genetic code is universal (i.e. the same triplet code codes for the same amino acid in all
organisms).
2 Gene expression (基因表達) is the process by which genetic information contained in a gene is
decoded to make a protein.
3 Transcription (轉錄) and translation (轉譯) are the two main stages of protein synthesis in cells.

Transcription
4 In transcription, the genetic information carried in DNA is copied to messenger RNA (mRNA)
(信使 RNA) inside the nucleus.
a The weak hydrogen bonds that hold the two b Free ribonucleotides are attracted to the
DNA strands of a gene break. The two DNA template strand through complementary
strands unwind. base pairing.
hydrogen bonds
template strand coding strand
(模板鏈) (編碼鏈)

free ribonucleotides

c RNA polymerase (RNA 聚合酶) catalyses

the joining of the adjacent ribonucleotides
to form mRNA.
The mRNA produced is complementary triplet
to the template strand, but the same as code
the coding strand of DNA except having
U instead of T. mRNA

codon

New Senior Secondary Mastering Biology  Oxford University Press 2015

(Second Edition) -1-
5 After transcription, the mRNA leaves the nucleus through the pores on the nuclear membrane
and enters the cytoplasm.

Translation
6 In translation, a polypeptide is made in the cytoplasm according to the genetic information
carried in the mRNA.
a The mRNA produced in transcription b Free amino acids join to specific transfer
attaches to a ribosome (核糖體). RNA (tRNA) (轉移 RNA) molecules in the
cytoplasm.
amino acid
ribosome
codon 1 codon 2 codon 3 codon n
(start) (stop) tRNA

c The tRNA molecule with an anticodon
complementary to the start codon on the
mRNA binds to the mRNA. This carries a
specific amino acid to the ribosome.
anticodon (反密碼子)
d Another tRNA molecule carrying an amino
acid binds to the next codon. The two amino
acids are then joined by a peptide bond.
peptide bond

tRNA

start codon

e The ribosome moves to the next codon and another amino acid is added to the dipeptide.
The process repeats until a stop codon is met. Finally, a polypeptide is made and released
from the ribosome.

third tRNA
binds to
mRNA
stop codon

the first tRNA leaves

to pick up another
direction of translation
amino acid

New Senior Secondary Mastering Biology  Oxford University Press 2015

(Second Edition) -2-
7 After translation, the polypepetide chain coils and folds into a protein.
8 Comparison between transcription and translation:

Transcription Translation

Occurs in Nucleus Cytoplasm

Mediated by RNA polymerase Ribosome

Template used One of the DNA strands (the mRNA

template strand) of a gene

Type of complementary Bases on DNA with bases on A codon in mRNA with an

base pairing involved free ribonucleotides anticodon in tRNA

Raw material Ribonucleotides Amino acids

Product mRNA Polypeptides

Fate of product Transported to cytoplasm for Used in the cells, embedded in

translation the cell membrane or secreted

27.2 Mutations
1 A mutation is a sudden and permanent change in the DNA of an organism.
2 Mutations can be classified as gene mutations (基因突變) and chromosome mutations (染色體
突變).

Gene mutations
3 Gene mutations are changes in the base sequence of the DNA in a gene. They can be brought
about by deletion (缺失), insertion (插入), substitution (取代) and inversion (倒位) of bases in
the DNA.
4 Deleting or inserting a number of bases that is not a multiple of three will shift the reading
frame (閱讀框). The resulting protein is usually non-functional.
5 Substitution or inversion of base(s) usually leads to the change of one triplet code only.
6 Sickle-cell anaemia (鐮狀細胞性貧血) is caused by a substitution of a base in the gene that
codes for a polypeptide chain in haemoglobin.

New Senior Secondary Mastering Biology  Oxford University Press 2015

(Second Edition) -3-
Chromosome mutations
7 Chromosome mutations are changes in the structure or number of chromosomes.
8 Changes in chromosome structure can be brought about by the following errors during the
crossing over of chromosomes in the process of meiosis:

Deletion Duplication

there is a loss
of genes
there is a gain
of genes

Inversion Translocation (易位)

the order of
genes is
reversed
some genes
are exchanged

9 Down syndrome (唐氏綜合症) is caused by a change in chromosome number. People with

Down syndrome have an extra chromosome 21 in their body cells.
- It occurs when homologous chromosomes or sister chromatids of chromosome 21 fail to
separate during gamete formation. They go to the same daughter cell.
- If the abnormal gamete containing an extra chromosome 21 fuses with a normal gamete, a
zygote with three chromosome 21 will be formed.
10 Spontaneous mutations (自發突變) are mutations that occur naturally and randomly.
11 Induced mutations (誘發突變) are mutations that are induced by mutagens (誘變劑).

New Senior Secondary Mastering Biology  Oxford University Press 2015

(Second Edition) -4-
12 Examples of chemical mutagens and radiations and their effect on DNA:

Chemical mutagen Radiation

Example Nitrous acid (亞硝酸), tar, asbestos (石棉) Ultraviolet light (紫外光) , X-rays and
and mustard gas (芥子氣) gamma rays (伽瑪射線)

Effect on Changes the chemical structure of DNA Ionizes water or other molecules to form
DNA free radicals (自由基), which are highly
reactive and can damage DNA
molecules.

13 Mutations that have an effect on organisms are usually harmful.

14 Most gene mutations have no effect on organisms because:
- some mutations may produce a different code for the same amino acid
- changes in an amino acid may not alter the shape of the protein
- alleles exist in pairs in cells. Mutations in one allele may be masked by the normal allele.
15 Some mutations can be beneficial:
- Mutations occurring in gametes or gamete-producing cells provide a source of variations in
a population. Variations are essential for natural selection (自然選擇) to work and to bring
about evolution.

New Senior Secondary Mastering Biology  Oxford University Press 2015

(Second Edition) -5-
 28 Biotechnology

28.1 Recombinant DNA technology

1 Biotechnology (生物工程) refers to the use of organisms, biological systems or processes in
producing goods or providing services.
2 Genetic engineering (遺傳工程) refers to the changing of the genetic make-up of an organism
by direct manipulation of DNA.
3 Production of genetically modified organisms (GMO 基因改造生物) is an application of
genetic engineering.
4 Recombinant DNA technology (重組 DNA 技術) is a technique in which a fragment of DNA
from a donor cell or organism is isolated and then inserted into the DNA of another cell or
organism.
5 Major steps in recombinant DNA technology:
donor cell bacterium
DNA containing
the gene of
interest plasmid
(目標基因) (質粒)

1 Obtain a 2 Obtain a vector (載體)

DNA fragment e.g. plasmid
containing the
gene of interest. gene of interest
plasmid

3 Cut the DNA fragment and

the plasmid using the same
restriction enzyme (限制酶).
open
plasmid

4 Join the DNA fragments

and the open plasmid
together using a DNA
ligase (DNA 連接酶).

recombinant plasmid (重組質粒)

New Senior Secondary Mastering Biology  Oxford University Press 2015

(Second Edition) -1-
6 Applications of recombinant DNA technology:
- To produce pharmaceutical products and for gene therapy (基因治療) in medicine.
- To increase the productivity and nutritional value of crops and farm animals in agriculture.
- To produce GM bacteria that can produce enzymes used in industrial process.
- To produce GM bacteria that can break down a wider range of hydrocarbons (碳氫化合物)
in oil spills.

28.2 DNA fingerprinting

1 DNA fingerprinting (DNA 指紋分析) is a technique of using DNA analyses to identify
individuals.
2 Major steps in DNA fingerprinting:

DNA

1 Extract DNA from 2 Obtain DNA fragments 3 Separate DNA fragments 4 Produce DNA
samples (e.g. blood, containing different using gel electrophoresis fingerprints
semen and hairs). variable regions. (凝膠電泳). (DNA 指紋).

Gel electrophoresis
3 Gel electrophoresis makes use of an electric field to drive DNA fragments across a gel slab
(凝膠塊) towards the positive terminal. The DNA fragments are finally separated into bands
according to their size.
direction of movement

sample 3
sample 2
sample 1

longer shorter
gel slab
fragments fragments

4 Applications of DNA fingerprinting:

- In forensic science to provide evidence on the identities of individuals in court cases.
- To establish family relationships in parentage tests.
- To identify victims in disasters.
- To authenticate (認證) Chinese medicines.
- To help conserve endangered species, e.g. by tracing the origin of ivory products.

New Senior Secondary Mastering Biology  Oxford University Press 2015

(Second Edition) -2-
28.3 Human Genome Project
1 A genome (基因組) refers to the complete set of DNA of an organism, including all its genes.
2 Goals of the Human Genome Project (HGP 人類基因組計劃):
- To sequence the human genome.
- To map all the genes in the human genome.
- To store the information in a database.
- To develop related new technologies and improve tools for data analysis.
- To address the ethical, legal and social issues that may arise.
3 Benefits of the HGP:
- Allows better understanding of genetics.
- Improves diagnoses and treatment of diseases.
- Allows better understanding of evolution.
4 Limitations of the HGP:
- The functions of many genes are still unknown.
- The data obtained is still not enough to understand some processes.
- It has raised ethical, legal and social issues.

New Senior Secondary Mastering Biology  Oxford University Press 2015

(Second Edition) -3-
 29 Evolution I

29.1 The origin of life

1 Scientists generally believe that the first organisms were formed by joining organic molecules
together. The organic molecules were produced from simple inorganic substances present in
the atmosphere of the early earth.

29.2 Evolution

1 The theory of evolution (進化) suggests that life on earth started from a common ancestor
(共同祖先). Over a long period of time, this ancestor developed into all the different species we
have today.
Evidence for evolution: Fossils
2 Fossils (化石) are the preserved remains or traces of ancient organisms.
3 One of the ways of fossil formation:
A fish dies. The soft parts of it decay, leaving the hard
parts like the skeleton. The skeleton is then buried in
mud and sand.

After millions of years, the mud and sand become rock

due to great pressure from the upper layers of sediment
(沉積物). Meanwhile, minerals begin to deposit in the younger rock layer
fish skeleton and turn it into a fossil.

fossil exposed
Earth movement raises the rock above water. older rock layer

Further earth movement or weathering exposes the

fossil.

4 Ancient organisms may also be preserved in resin (樹脂) or ice.

5 Fossils are usually preserved in sedimentary rocks (沉積岩). The lowest layer is the oldest
rock that contains the earliest fossils while the uppermost layer is the youngest rock that
contains the most recent fossils.
6 The sequence of fossils in sedimentary rocks forms the fossil record (化石紀錄).
7 The fossil record agrees with the theory of evolution that:
- existing life forms arose from pre-existing life forms
- organisms became more complex in structure and more diversified.
New Senior Secondary Mastering Biology  Oxford University Press 2015
(Second Edition) -1-
8 Scientists can estimate the age of fossils by radioisotope dating (放射性同位素定年法).
9 Limitations of the fossil record:
- There are missing links (缺少的環節) in fossil records.
- Soft-bodied organisms usually do not form fossils.
- The bodies of dead organisms may be eaten by other organisms or decay before fossilization
occurs.
- The conditions in which the organisms died are not suitable for fossil formation.
- Most fossils are incomplete and may be damaged.
- Some fossils are located in inaccessible areas.

Evidence for evolution: Homologous structures

10 Homologous structures (同源構造) are structures that have the same basic design but perform
different functions.
11 The pentadactyl limbs (五趾型肢) of mammals like humans, horses, bats and whales are
examples of homologous structures.

Evidence for evolution: Comparative biochemistry

12 Scientists compare the base sequence of DNA or the amino acid sequence in proteins
between different species to deduce the phylogenetic relationship between different species.
Assumption:
- The higher the percentage of similarities in the base sequence of DNA or the amino acid
sequence in proteins, the closer the phylogenetic relationship between the species.
The biological principle behind:
- The amino acid sequence in a protein is determined by the base sequence of the DNA.
Mutations lead to changes of the base sequence of DNA. Organisms with a closer
phylogenetic relationship would have fewer mutations and therefore more similar base
sequence of DNA or amino acid sequence in proteins.
13 The figure on the right shows an
evolutionary tree (進化樹) of humans and rhesus
human gorilla monkey dog chicken frog
five other vertebrates. It is constructed
based on the number of amino acid
differences between the amino acid
sequences of one of the polypeptide
chains of haemoglobin of the species.
We can see that humans are more closely ancestor
related to gorillas than rhesus monkeys.

New Senior Secondary Mastering Biology  Oxford University Press 2015

(Second Edition) -2-
 30 Evolution II

30.1 Mechanism of evolution

Lamarckism
1 Lamarckism (拉馬克學說) suggested that:
- environmental changes created needs that caused organisms to modify their existing
structures to meet these needs. Those structures which were repeatedly used would become
well developed, whereas those which were not used would degenerate.
- acquired characters (後天獲得的性狀) would be passed on to later generations.

Darwinism
2 The theory of natural selection (自然選擇), also known as Darwinism (達爾文主義), came from
deductions which were made from a series of observations:

Observation Deduction

Organisms are able to produce large numbers The individuals compete with one another for
of offspring, but the number of individuals in a limited resources (struggle for existence 生存競爭).
population remains fairly stable.

There is variation among individuals of the Individuals with favourable characters are better
same species. adapted to the environment. They have a higher
chance of survival and reproduction (survival of
the fittest 適者生存).

Some favourable characters are passed on to
offspring.
The better adapted individuals breed and pass their
favourable characters on to their offspring.
Accumulation of favourable characters over many
generations makes individuals quite different from
their ancestor.

New Senior Secondary Mastering Biology  Oxford University Press 2015

(Second Edition) -1-
3 Differences between Lamarckism and Darwinism:

Lamarckism Darwinism

1 Environmental change creates a need for 1 Variations already exist within species.
organisms to change.

2 In order to survive, individuals can develop 2 The environment selects those individuals
new features in response to the with favourable characters to survive, and
environmental change. eliminates the others.

3 Acquired characters are passed on to later
generations, making them quite different
from their ancestor.
3 Individuals with favourable characters have a
higher chance of survival and
reproduction. The offspring inherits these
characters, making them quite different from
their ancestor.

4 Examples of natural selection in action:

- Peppered moths

white
peppered
moth

black
peppered
moth

1 Before industrialization, white
peppered moths on light-
coloured tree trunks were
hard to see. The black
peppered moths were easily
seen and eaten by birds.
2 During industrialization, the tree 3 The black peppered moths
trunks were darkened by smoke produced more offspring.
and soot released from factories. As a result, more black
The white peppered moths became peppered moths were
easier for birds to see and eat while present in polluted areas.
the black peppered moths were
well camouflaged. In such an
environment, the black peppered
moths had a higher chance of
survival and reproduction.

New Senior Secondary Mastering Biology  Oxford University Press 2015

(Second Edition) -2-
 - Insecticide-resistant insect pests

non-resistant resistant mosquito

mosquito

1 Genetic variations exist
among mosquitoes in their
resistance to DDT.
2 When DDT is applied, the
resistant mosquitoes have a
higher chance of survival and
reproduction.
3 With the repeated use of
DDT, the proportion of the
resistant mosquitoes
increases in subsequent
generations. As a result, DDT
becomes less effective in
killing mosquitoes.

- Antibiotic-resistant bacteria
non-resistant
bacterium
resistant bacterium

1 Genetic variations exist
among bacteria in their
resistance to a certain
antibiotic.
2 When the antibiotic is used,
the antibiotic-resistant
bacteria have a higher
chance of survival and
reproduction.
3 With the indiscriminate use
of the antibiotic, the
proportion of the resistant
bacteria in the population
increases in subsequent
generations.

5 Knowing that genetic variations can be caused by mutations, Darwinism is refined as

neo-Darwinism (新達爾文主義).

30.2 Speciation
1 Speciation (物種形成) is the process by which new species form.
2 Process of speciation:

After many generations,

A population separates
genetic variations may
into small groups. The
Each group may accumulate to a point The isolated
groups are isolated (隔離)
then evolve where individuals of
from one another so that groups become
independently by different isolated groups different species.
they cannot interbreed
natural selection. can no longer
and there is no gene flow
interbreed to produce
between them.
fertile offspring.

New Senior Secondary Mastering Biology  Oxford University Press 2015

(Second Edition) -3-
3 Example of speciation:

wetter drier

forest group A group B

1 A single species of tortoise occupies a habitat. 2 A mountain range separates the tortoise
The individuals can interbreed freely. population into two groups so that they cannot
meet and interbreed. The climate starts to
change on one side of the mountain range.

3 As the environmental conditions on the two
sides of the mountain range are different,
natural selection acts on the two groups in
different ways. The two groups evolve
independently.
4 After many generations, the genetic
differences between the two groups have
become so large that they can no longer
interbreed even if they meet again. The two
groups become two different species.

4 Geographic isolation (地理隔離) is one of the isolation mechanisms. It happens when different
groups of organisms are separated by physical barriers, such as mountain ranges, oceans,
deserts, rivers, etc.

New Senior Secondary Mastering Biology  Oxford University Press 2015

(Second Edition) -4-