25 Basic genetics

25.1 Mendel’s laws of inheritance

1 Monohybrid inheritance (單基因遺傳) is the inheritance involving one pair of contrasting
characters (對比性狀).
2 Procedure of Mendel’s monohybrid inheritance experiment:

 He cross-pollinated pure-bred (純種) tall and short plants.

 He collected the seeds produced and sowed them. The plants produced is called the
first filial generation (第一子代) or F1 generation. All the F1 plants were tall.

 He allowed the F1 plants to self-pollinate.

 He collected the seeds produced and sowed them. The plants produced is called the
second filial generation (第二子代) or F2 generation. The ratio of tall to short plants
in F2 generation was about 3 : 1.

3 The meaning of some important terms in genetics:

Gene (基因) Allele (等位基因)

- The basic unit of heredity (遺傳). It is a - Alleles are different forms of a gene.
segment of a DNA molecule on a
chromosome that controls a particular
characteristic.

Homozygous (純合的) Heterozygous (雜合的)

- Describes an individual with the same allele - Describes an individual with different
for a particular characteristic. alleles for a particular characteristic.

Dominant (顯性) Recessive (隱性)

- Describes an allele which can express itself - Describes an allele which is masked in a
in a heterozygous condition, or a character heterozygous condition, or a character that
that is expressed in such condition. is masked in such condition.

Genotype (基因型) Phenotype (表現型)

- The genetic make-up of an individual. - The observable character of an individual.

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4 The Mendel’s first law of inheritance or the Law of Segregation (分離定律) states that during
gamete formation, alleles separate so each gamete receives only one allele from each pair.
5 The genetic diagram (遺傳圖解) below shows the results of Mendel’s experiment on
monohybrid cross (單基因雜種雜交) in pea plants:

Let T be the allele for tallness and t be the allele for shortness.
tall short
Parents TT  tt

Gametes ○
T ○
t

F1 Tt  Tt

Gametes ○
T ○
t ○
T ○
t

F2 TT Tt Tt tt

Phenotype tall short

Ratio 3 : 1

6 A test cross (測交) can be performed to determine the genotype of an organism with a
dominant character. The organism is crossed with a homozygous recessive organism.
- If only organisms showing the dominant character appear in the offspring, the organism
being tested is probably homozygous dominant.
- If organisms showing the recessive character appear in the offspring, the organism being
tested is probably heterozygous.
7 Dihybrid inheritance (雙基因遺傳) is the inheritance involving two pairs of contrasting
characters at the same time.
8 The Mendel’s second law of inheritance or the Law of Independent Assortment (獨立分配定
律):

- states that the separation of alleles of one gene is independent of the separation of alleles
of other genes during gamete formation.
- only applies to genes that are located on different pairs of homologous chromosomes.
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9 The Punnett square (龐氏表) below shows the possible combinations of alleles in the F2
generation in Mendel’s experiment on dihybrid crosses in pea plants:
R: the allele for round seed r: the allele for wrinkled seed
Y: the allele for yellow seed y: the allele for green seed

F2 RY Ry ♀ rY ry
RRYY RRYy RrYY RrYy
RY

RRYy RRyy RrYy Rryy

Ry

♂
RrYY RrYy rrYY rrYy
rY

RrYy Rryy rrYy rryy

ry

Phenotypic ratio round and round and wrinkled and wrinkled and
: : :
yellow (R-Y-) green (R-yy) yellow (rrY-) green (rryy)

9 : 3 : 3 : 1

25.2 Inheritance in humans

Inheritance of blood groups

1 Blood groups are determined by the type of antigens on the surface of red blood cells.
2 If the recipient’s blood contains antibodies that will act against the antigens on the red
blood cells of the donor’s blood, the donor’s blood is said to be incompatible with the
recipient’s blood. Receiving incompatible blood can cause clumping (聚集) of blood cells or
haemolysis.
3 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.

Blood group
A B AB O
(phenotype)

Possible genotype IAIA and IAi IBIB and IBi IAIB ii

Antigen produced antigen A antigen B antigens A and B none

Antibody in plasma anti-B anti-A none anti-A and anti-B

Can receive blood from A and O B and O A, B, AB and O O

Can donate blood to A and AB B and AB AB A, B, AB and O

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4 Genes with more than two alternative forms are said to have multiple alleles (多等位基因).
5 The genetic diagram below shows how the possible blood groups of offspring can be
determined if the genotypes of the parents are known.

Let IA represent the allele for antigen A production, IB be the allele for antigen B production
and i be the allele for no antigen production on red blood cells.
blood group A blood group B

Parents IAi  IBi

Gametes

F1 genotype IAIB IAi IBi ii

Phenotype blood group AB blood group A blood group B blood group O
Ratio 1 : 1 : 1 : 1

Sex determination
6 In the somatic cells in our body, there are 23 pairs of homologous chromosomes. Of the 23
pairs, 22 pairs are the same in males and females. They are called autosomes (常染色體).
7 Sex in humans is determined by the 23rd pair of chromosomes called the sex chromosome
(性染色體). Males have one X chromosome and one Y chromosome while females have two
X chromosomes.
8 Females produce only X-bearing ova. Males produce X-bearing sperms and Y-bearing
sperms in equal proportions.
9 The sex of a baby is determined by the type of sperm that is involved in fertilization.
- If the ovum is fertilized by an X-bearing sperm, the zygote develops into a girl.
- If the ovum is fertilized by a Y-bearing sperm, the zygote develops into a boy.
10 The chance of having a boy or a girl for each birth is the same because:
- X-bearing sperms and Y-bearing sperms are produced in equal proportions.
- fertilization is a random process.

Inheritance of sex-linked characteristics

11 Sex-linked (性連鎖) genes refer to genes located on the sex chromosomes. The sex-linked
genes that are located on the X chromosome are called X-linked genes.
12 Red-green colour blindness is caused by a recessive allele on the X chromosome.

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13 The genetic diagram below shows how red-green colour blindness can be inherited.

Let B be the allele for normal vision and b be the allele for red-green colour blindness.
normal colour vision red-green colour-blind
male female
Parents XBY  XbXb

Gametes

F1 genotype XBXb Xb Y
Phenotype normal colour vision red-green colour-blind
(female carrier) (male)
Ratio 1 : 1

14 Males have one X chromosome and one Y chromosome. A male having one recessive allele
will be red-green colour-blind as the gene is not found on the Y chromosome. This explains
why red-green colour blindness is more common in males.

Studying inheritance in humans using pedigrees

15 A pedigree (譜系) is a diagram showing the inheritance of a characteristic in a family.
16 By tracing the pattern of inheritance of a characteristic through a pedigree, we can:
- find out if the allele for a character is dominant or recessive.
- deduce the possible genotypes of a certain individual.
17 How to determine which allele is dominant:
- Individual 5 has straight hair. He must have
at least one allele for straight hair that is
inherited from his parents, either individual 1
or 2.
- Both individuals 1 and 2 have curly hair.
They must have at least one allele for curly
hair.
- Hence, at least one of individuals 1 and 2 is
heterozygous.
- Under heterozygous conditions, only the
dominant allele can be expressed.
- Therefore, the allele for curly hair is
dominant.

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25.3 Variations in organisms
1 Variations are the differences among individuals of the same species.
2 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

Cause Genetic and environmental factors Mainly genetic factors

Genetic Usually controlled by many genes Usually controlled by one or a few

control gene(s)

Representative Histogram (直方圖) Bar chart

chart - If the mid-points of each bar are
joined together, a normal
distribution curve (常態分佈曲線)
with a characteristic bell shape is
obtained

Examples Height, weight, skin colour, hand Shape of hairline, free earlobes or
span, foot length, heart rate, blood attached earlobes, ability to roll the
pressure and intelligence quotient (IQ) tongue, straight thumb or hitchhiker’s
thumb, having or not having dimples
and ABO blood groups

3 Variations in organisms are caused by genetic and environmental factors.

4 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)

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25.4 DNA — the carrier of genetic information
1 Nucleic acids (核酸) are made up of nucleotides (核苷酸). Each nucleotide consists of a
phosphate group, a 5-carbon sugar and a nitrogenous base (含氮鹼基). The two main types
of nucleic acids are DNA (deoxyribonucleic acid 脫氧核糖核酸) and RNA (ribonucleic acid
核糖核酸).

2 Differences between DNA and RNA:

DNA RNA

Nucleotide Structure phosphate phosphate

group group

nitrogenous nitrogenous
base base

deoxyribose ribose

5-carbon Deoxyribose (脫氧核糖) Ribose (核糖)

sugar

Nitrogenous Adenine (A) (腺嘌呤) Adenine (A)

bases 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 nucleotide Two (double-stranded) One (single-stranded)

strands in a molecule

Function Carries genetic information Involved in protein synthesis

3 The nucleotides joined to one another between the sugar of one nucleotide and the phosphate
group of the next, forming a sugar-phosphate backbone of a polynucleotide (多核苷酸).
4 The Watson-Crick model of DNA proposed that:
- a DNA molecule consists of two polynucleotide strands, which run in opposite directions
and twist around each other to form a double helix.
- A of one strand pairs only with T of the other strand by hydrogen bonds, and C with G.
These rules are called complementary base pairing (互補鹼基配對).
5 Chromosomes are made up of DNA and proteins. A gene is a segment of the DNA molecule on
a chromosome.

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6 The base sequence of DNA in a gene (i.e. genetic code (遺傳密碼)) determines the amino acid
sequence in a polypeptide. Since proteins are made up of polypeptides, genes can determine
the body characteristics of an organism by controlling the types of proteins a cell makes.
7 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.
- the base pairs project inwards and the genetic information is protected from damage.
- DNA can replicate (複製) accurately.
8 The process of DNA replication:

hydrogen bond

free nucleotide

original new new original

strand strand strand strand

 The hydrogen bonds between two DNA strands break. The two strands separate.
 Each DNA strand acts as a template (模板) for the synthesis of a new DNA strand. The bases
in free nucleotides form complementary base pairing with the bases in the DNA strands.
DNA polymerase (DNA 聚合酶) catalyses the joining of the adjacent nucleotides to form a
new DNA strand.
 Two identical DNA molecules are formed. Each contains an original strand and a new
strand.

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