Character / Characteristic Trait

Eye colour in humans Black

Blue
Fruit shape in tomatoes Round
Long
Eye colour in fruit flies Red
White
Name: ……………………………........... Date: ……………………………… Pod colour in garden peas Green
Yellow
Form 5 Biology Table 5.1 Characters and Traits in some Organisms
Chapter 5 Inheritance 5.1 [2] Mendelian Inheritance

[1] Gregor Mendel was the first person to work out the basic laws that govern the
inheritance of genes.

[2] Starting from about 1856, for a period of ten years, Mendel conducted his
famous breeding experiments with the garden pea [Pisum sativum].

[3] Mendel isolated plants which are pure breeding, that is, when bred with each
other, they produce consistently the same characteristics over many generations.

[4] Mendel chose characters which had two contrasting traits. For examples, he
chose height, which could either be tall or dwarf.

[5] Monohybrid inheritance refers to the inheritance of a single character.

5.1 The Concept of Inheritance Based on Mendel’s Experiment [6] In one of the experiments, Mendel crossed tall and dwarf plants.
[1] The scientific study of inheritance is called genetics. [i] To prevent self-fertilisation, he removed the stamens from the flowers of
one trait [for example, tall]
5.1 [1] Inheritance, Characters and traits

[1] Inheritance is defined as the transmission of traits from one generation by [ii] Then he transferred pollen to the stigma of each flower from the anthers of
means of genetic codes. the contrasting trait [for example, dwarf]

[2] A character or characteristic is a distinctive structural or functional feature [iii] The seeds produced, or hybrid seeds, were collected, counted and grown to
determined by a gene or group of genes. give the first filial generation [F1].
[3] A trait is a specific characteristic that varies from one individual to another.
[iv] Mendel recorded the traits [ tall or dwarf ] of these plants.
 [v] He then crossed plant from the F1 generation and the seeds produced were [7] The table below shows that for all the characters investigated, a ratio close to
collected and grown to give the second filial generation [F2]. 3 : 1 was obtained in the F2 generation of monohybrid inheritance.

[vi] The traits of each plant [tall or dwarf] were again recorded.

Table 5.2 Mendelian Inheritance

Table 5.2 Mendel’s results on monohybrid inheritance with two generations of

garden peas

Diagram 5.1 Results of cross between tall pea plants and dwarf pea plants

[8] From the results of, for example, a cross between tall and dwarf parents,
Mendel noticed that:

- There were no plants of intermediate height in the F1 and F2 generations.

- There were no dwarf plants in the F1 generation, but they reappeared in the
F2 generation.
Table 5.1 Characters and traits of pea plants in Mendel’s experiments
5.1 [3] Hereditary factor [5] We normally use the upper case [capital] letter to represent the dominant
allele and the lower case letters to represent the recessive allele. In the example
[1] Mendel concluded that traits are not blended together like different colours of
for the height of pea plant we can use
plant to produce an intermediate results, but that they were determined by
definite, discrete particles which he called factors. T - to represent the dominant allele for tallness
t - to represent the dominant allele for dwarfness
[2] Although all the F1 plants were tall, they received from their dwarf parent a
factor for dwarfness which remained ‘hidden’ in the F1 generation but revealed its
presence in the F2 generation. 5.1 [6] Genotype and phenotype

[3] Although Mendel knew nothing of genes and chromosomes, he suggested that [1] Genotype is the genetic make-up or genetic constitution of an organism. The
his factors must be transmitted from parents to offspring via gametes. genotype of an organism is represented by paired symbols.

5.1 [4] Dominant Traits and Recessive Traits [2] As the parent plants were pure-bred, the genotype of one of the parents can
be represented as TT and the other as tt. The genotype of all the F1 plants is Tt.
[1] The pea plants carry two traits for each character, one trait coming from each
parent. [3] Phenotype is the outward appearance of the organism, that is, the way the
genes express themselves in the structure of the organism.
[2] As all F1 plants are tall, the trait for tallness must be dominant to the factor to
dwarfness. [4] Plants with genotypes TT and Tt have the ‘tall’ phenotype. Plants with
genotype tt have the ‘short’ phenotype.
[3] Dominant trait is a trait that appears in the offspring even if only one of the
parents contributed it. The dominant trait is the prevailing trait. VIVA Genotype and phenotype Checkpoint [5.1]

[4] Recessive trait that must be contributed by both parents and will only appear
in the offspring in the absence of a dominant allele.

5.1 [5] Gene and alleles

[1] Some alleles are dominant; others are recessive.

VIVA Solution
[2] An organism with a dominant allele for a particular form of a trait will always
exhibit that form of the trait.

[3] An organism with a recessive allele for a particular form of a trait will exhibit
that form only when the dominant allele for the trait is not present.

[4] In Mendel’s experiment, the allele for tall plants was dominant and the allele
for short plants was recessive.
5.1 [7] Homozygote and Heterozygote VIVA Homozygote and Heterozygote Checkpoint [5.2]
[1] When two identical alleles occur together as the same locus on a pair of
homologous chromosomes, they are said to be homozygous.

Homo : same Zygo : joined

- When two alleles for tallness occur together [TT], they are said to be
homozygous dominant.
- When two alleles for dwarfness occur together [tt], they are said to be
homozygous recessive.

[2] When two different alleles occur together at the same locus on a pair of
homologous chromosomes [Tt], they are said to be heterozygous.

Hetero : different Zygo : joined

VIVA Solution

[3] The organism that has the same alleles at a particular gene locus on
homologous chromosomes is called homozygote.

[5] Homologous chromosomes are a pair of matching chromosomes in an

organism, in which one is derived from the male parent, the other from a female
parent.

5.1 [8] Monohybrid inheritance, phenotypic ratio and genotypic ratio

[1] Monohybrid inheritance refers to the inheritance of a single character.

[2] The phenotypic ratio is the ratio of genotypes in a population of offspring.

[3] The genotypic ratio is the ratio of genotypes in a population of offspring.

Diagram 5.2 Relationship between genes and alleles on a pair of homologous

chromosomes

[4] The organism that has different alleles at a particular gene locus on
homologous chromosomes is called heterozygote.
 [4] In meiosis II, the chromatids are pulled apart and each gamete formed has a
set of chromosomes.

Diagram 5.4 Meiosis

5.1 [10] Model’s first law

[1] Mendel’s first law is known as Law of Segregation.

Diagram 5.3 The genotypic ratio and phenotypic ratio of a monohybrid cross
[2] The law of segregation states:
5.1 [9] The importance of meiosis I in the segregation of alleles.
The characteristics of an organisms are determined by internal factors which
[1] Mendel’s factors are actually genes. occur in pairs. Only one of a pair of such factors can be represented in a single
gamete.
[2] The process which produces gametes with only one of each pair of factors is
meiosis. [3] According to the law, an organism has two versions of each gene, but only one
of these versions passed on to the offspring. This is because of meiosis.
[3] In meiosis I, the pairs of homologous chromosomes are separated.
 VIVA Model’s first law Checkpoint [5.3]

VIVA Solution

5.1 [11] Dihybrid Inheritance

[1] Dihybrid Inheritance is the inheritance of two characteristics, each controlled

by a different gene at a different locus.

[2] When the F1 generation were self-crossed, the phenotypic ratio in the F2
generation is 9 tall, purple-flowered: 3 tall, white flowered: 3 dwarf, purple-
flowered: 1 dwarf, white flowered.

[3] The phenotypes and genotypes in the F2 generation are shown in the table
below.
Diagram 5.5 The genotypic ratio and phenotypic ratio of a dihybrid cross
 VIVA Mendel’s second law Checkpoint [5.4]

Table 5.2 The phenotypes and genotypes in the F2 generations

5.1 [12] Mendel’s second law

[1] Mendel’s second law is known as the Law of Independent Assortment.

[2] The law of independent assortment states:

- Each of a pair of contrasted characters may be combined with either of

another pair.

[3] An organism with a genotype of TtPp can produce gametes of TP, Tp, tP or tp.
One allele from each pair passes into the gamete, and all four combinations are
possible. This is due to independent assortment during meiosis.

VIVA Solution

5.2 Inheritance

5.2 [1] Blood Groups – ABO Blood Group System

[1] The ABO system is controlled by a single gene, I, with three alleles, IA, IB and IO.
Diagram 5.5 Homologous chromosomes separate during meiosis, producing four
different types of gametes by independent assortment
 VIVA Blood Groups Checkpoint [5.5]

VIVA Solution

[2] Each individual inherits two alleles which combine to produce the blood group
as shown in the table below.

VIVA Blood Groups Checkpoint [5.6]

Table 5.3 The genetics of the ABO blood group system

[3] The transmission of these alleles follows Mendel’s laws.

[4] Foe example, a cross-between an individual of group AB and one of group O

may give rise to individuals none of whom possesses either parental blood group.

VIVA Solution

Table 5.4 The ABO system of blood grouping

VIVA Blood Groups Checkpoint [5.7] 5.2 [2] The rhesus System

[1] Individuals with antigen D in their red blood cells are said to be rhesus positive
[Rh+] and those without antigen D are rhesus negative [Rh-].

[2] The blood does not contain any preformed plasma antibodies associated with
the rhesus factor.

VIVA Solution

VIVA Blood Groups INFO [5.1]

Diagram 5.6 The mechanism of erythroblastosis

[3] When Rh- person’s blood is exposed to Rh+ blood is exposed to Rh+ through a
blood through a blood transfusion, his body produces anti-D in the plasma. A
second transfusion of Rh+ blood into the person will result in haemolysis of the
donor’s red blood cells.
[4] An Rh- patient can only receive Rh- blood. - Of that number, 22 pairs are identical in both sexes and they are called
autosomes.
[5] An Rh- patient can receive Rh + or Rh- blood.

[6] The rhesus factor causes problems if an Rh- mother has more than one Rh+ - The 23rd pair of human chromosomes are sex chromosomes. They are
baby. During the pregnancy, Rh+ blood cells may pass from the foetus to the different in males and females. The sex chromosomes are called X and Y.
mother, perhaps through a leaky placenta or during birth, and cause the mother
to produce antibodies which are detrimental to subsequent Rh+ foetuses. The
danger can be avoided if the Rh- mother is injected with drugs that suppress her
production of anti-D.

VIVA The rhesus System Checkpoint [5.8]

Table 5.5 A human chromosome

[2] Females have two X chromosomes (XX) while males have one X chromosome
and one Y chromosome (XY).

VIVA Solution

Diagram 5.7 Unsorted human chromosomes from the nucleus of a diploid somatic
cell

[3] The images of the 46 chromosomes can be cut out and arranged into
homologous pairs based on the location of the centromere and size of
chromosomes. This orderly arrangement is called a karyotype.
5.2 [3] Human Karyotypes

[1] There are 23 pairs of chromosomes in humans.

 Karyotype of a somatic cell of a normal mate [4] One of the abnormalities of autosomes is Down’s syndrome. Individuals with
Down’s syndrome have three copies of chromosome number 21.

[5] Children with Down’s syndrome have a characteristic appearance, slanted

eyes and a short broad face. They are mentally retarded, susceptible to infections
and frequently have congenital heart disease.

VIVA Karyotype Checkpoint [5.9]

Karyotype of a somatic cell of a normal female

VIVA Solution
Karyotype of a somatic cell of a Down’s syndrome

5.2 [4] Sex Determination in Humans

[1] Sex chromosomes are transmitted in a normal Mendelian manner.

[2] In human the female produces gametes which all contain an X chromosome,
the male produces two types of gametes: one which contains an X chromosome,
Table 5.6 Down’s syndrome the other a Y chromosome.
 VIVA Sex Determination in Humans INFO [5.2] - In males, the presence of an allele for haemophilia on the X chromosome will
produce the disease, because the Y chromosome does not carry an allele for
normal blood clotting.

- In females, the presence of alleles for haemophilia on both X chromosomes

produces the disease. Thus, the occurrence of haemophilia among females is
very rare.

- Females with one dominant allele and one recessive allele for haemophilia are
called carriers. Carriers do not show symptoms of the disease.

VIVA Sex-linked Inheritance INFO [5.3]

5.2 [5] Sex-linked Inheritance

[1] Sex-linked Inheritance is the inheritance genes carried on the sex

chromosomes. However, these genes determine body characters and have
nothing to do with sex.

[2] Two well-known sex-linked genes in humans are those causing haemophilia
and red-green colour-blindness.

Haemophilia
- Haemophilia is a disease in which the blood of the affected person has a
markedly reduced ability to clot, due to a deficiency of one of the blood
clotting factors.

- This disease is caused by a recessive gene carried on the X chromosome.

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