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IGCSE Biology Examination Year 2022-2023

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CHAPTER- 17: Inheritance

Motiour Rahman Khan


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IGCSE Biology Examination Year 2022-2023

Chromosomes, genes and proteins

Some Important Definitions

1. Inheritance: Inheritance is the transmission of genetic information from generation to generation.


2. Chromosome: Chromosome is a thread-like structure of DNA, carrying genetic information in the
form of genes
3. Gene: gene is a length of DNA that codes for a protein.
4. Allele: allele is a version of a gene
5. Haploid nucleus: Haploid nucleus is a nucleus containing a single set of unpaired chromosomes e.g.
in gametes
6. Diploid nucleus: Diploid nucleus is a nucleus containing two sets of chromosomes, e.g. in body cells

DNA
The DNA in all of your cells is approximately two
meters long, except red blood cells which have none
and sperm or eggs which only have about one meter.
Because it is so long it is very thin and coiled into
structures called chromosomes.

Chromosomes
The chromosomes are found in the nucleus of each
cell. Human body cells each contain 23 pairs of
chromosomes, half of which are from each parent.
So, human gametes (eggs and sperm) each contain
23 chromosomes. When an egg is fertilised by a sperm, it becomes a cell with 23 pairs of chromosomes.
This is why children resemble both their
parents – half of their chromosomes and DNA
comes from their mother, and half from their
father.

Chromatids
Gene
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IGCSE Biology Examination Year 2022-2023

A gene is a section of DNA that is responsible for a characteristic like eye colour or blood group. Humans
have around 20,000 genes. DNA makes up genes, which makes up chromosomes. One copy of all your
chromosomes is called your genome.
centromere

Alleles
When the chromosomes are in pairs, there may be a different form (allele) of the gene on each
chromosome.

DNA structure
DNA is the molecule that holds the instructions for
growth and development in every living thing. Its
structure is described as a double-stranded helix held
together by complementary base pairs.
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IGCSE Biology Examination Year 2022-2023

The basic units of DNA are nucleotides. These nucleotides consist of a deoxyribose sugar, phosphate and
base. The nucleotides are identical except for the base, which can be an adenine, thymine, guanine or
cytosine.

These basic units are linked together to form strands by strong covalent bonds between the deoxyribose
sugar of one nucleotide and the phosphate of the next nucleotide. These strong bonds form a sugar-
phosphate backbone.

All cells store their genetic information in the base sequence of DNA. The
genotype is determined by the sequence of bases

Sequence of bases and genetic code:


The genetic code is the sequence of nucleotide bases in nucleic acids (DNA and RNA) that code for
amino acid chains in proteins. DNA consists of the four nucleotide bases: adenine (A), guanine (G),
cytosine (C) and thymine (T). RNA contains the nucleotide bases- adenine (A), guanine (G), cytosine(C)
and uracil (U). When three continuous nucleotide bases code for an amino acid or signal the beginning or
end of protein synthesis, the set is known as a codon. These triplet sets provide the instructions for the
production of amino acids sequence. Amino acids are linked together to form proteins.

E.g. the codon AUG codes for the amino acid methionine and serves as a start signal for the beginning of
translation, CCG for glycine and CAG is for valine and three (UAA, UAG, UGA) serve as stop signals to
designate the end of protein synthesis.

Protein synthesis:

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IGCSE Biology Examination Year 2022-2023

The main stages of protein synthesis are


transcription and translation.

A.The process of transcription

Transcription takes place in the nucleus:

 the gene coding for the protein required untwists then unzips, the H-bonds between the strands
break
 free RNA nucleotides form complementary base pairs with one strand of DNA bases
 weak hydrogen bonds form between base pairs
 sugar phosphate bonds form between RNA nucleotides
 mRNA strand is synthesized
 mRNA peels off the DNA and moves out of the nucleus into the cytoplasm

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IGCSE Biology Examination Year 2022-2023

B. The process of translation

Translation takes place on the ribosomes in the cytoplasm, or found on the rough Endoplasmic Reticulum
(ER):

 the ribosomes are the sites of protein synthesis


 the mRNA strand attaches to a ribosome
 tRNA molecules transport specific amino acids to the ribosome
 each mRNA codon codes for a specific amino acid
 the anti-codons and codons match up and form complementary base pairs
 peptide bonds form between the adjacent amino acids to form the polypeptide (protein)

It is important to note that the tRNA is reused and collects another specific amino acid. Once the protein
has been synthesised mRNA may move to another ribosome to make a further protein or it can be broken
down into free nucleotides to be reused.

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IGCSE Biology Examination Year 2022-2023

Processing the protein

After translation, the protein passes into the channels of the rough endoplasmic reticulum (ER) for
transportation. The protein is then passed from the rough ER to the Golgi apparatus inside tiny fluid-filled
sacs, called vesicles. The Golgi apparatus is a system of membranes, which are responsible for the
modification, processing, and packaging of the proteins. The protein may have a carbohydrate added, to
form a glycoprotein. The Golgi apparatus packages the protein in a secretory vesicle, which fuses with the
cell membrane and releases the protein from the cell.

Role of DNA in cells:


DNA is the information molecule. It stores instructions for making other large molecules, called proteins.
These instructions are stored inside each of our cells, distributed among 46 long structures called
chromosomes. These chromosomes are made up of thousands of shorter segments of DNA, called genes.
Each gene stores the directions for making protein fragments, whole proteins, or multiple specific proteins
such as enzymes, antibodies and receptors for neurotransmitters

Some genes in a particular cell are not expressed:


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IGCSE Biology Examination Year 2022-2023

Each cell contains a full complement of genes, yet cells from different tissues and organs look and behave
differently. The reason is that only some of the DNA of each cell is used to make proteins. DNA plays a
role as a traffic cop for the types of proteins a cell will make. It does this through interactions with
proteins in the cells that cause only certain genes to express themselves. This is how a single fertilized
egg cell differentiates into the many types of cells, tissues and organs found in complex organisms. The
DNA can respond to the need for a particular protein by exposing the appropriate genes for transcription
while keeping other genes inactive.

Inheritance of sex in humans


There are 23 pairs of chromosomes present is each human cell, one pair is the sex chromosomes. These
determine the sex of the individual. Male have XY, female have XX. So the presence of a Y chromosome
results in male features developing.

Cell division: Mitosis and Meiosis

Some Important Definitions

7. Mitosis: Mitosis is nuclear division giving rise to


genetically identical cells.
8. Meiosis: Meiosis is reduction division in which the
chromosome number is halved from diploid to haploid
resulting in genetically different cells.
9. Stem cells: Stem cells are unspecialised cells that divide
by mitosis to produce daughter cells that
can become specialised for specific functions.
Mitosis
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IGCSE Biology Examination Year 2022-2023

Mitosis is the way in which any cell (plant or animal) divides


when an organism is:
 growing
 repairing a damaged part of its body
 replacing worn out cells
 Growth means getting bigger. An individual cell can
grow a certain amount, but not indefinitely. Once a
cell gets to a certain size, it becomes difficult for all
parts of the cell to obtain oxygen and nutrients by
division. In order to grow any more, the cell divides to
form two smaller cells, each of which can then grow
and divide again. Mitosis is also used in asexual
reproduction.
For example, sweet potato plant can reproduce by
growing adventitious roots or runners which
eventually produce new plants.

Process of mitosis
 During the process, all the chromosomes in the parent cell are copied.
 Each copy remains attached to the original one --> each chromosome is made up of 2 identical
threads joined together.
 The parent cell (with 4 chromosomes) split to form 2 nuclei each with 2 chromosomes as the
parent nucleus cell.
 At the end of a mitotic cell division, the number of cells is doubled and the daughter cells
produced are genetically identical to the parent.

Fig. mitosis cell division

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IGCSE Biology Examination Year 2022-2023

Meiosis cell division

Meiosis is the way in which gametes (sex cells) are produced. Gametes have only half the number of
chromosome of a normal body cell. They have 1 set of chromosome instead of 2. When they fuse
together, the zygote formed has 2 sets.
Human gametes are formed by the division of cells in the ovaries and testes

 The gametes produced are haploid, but they are formed from diploid cells, so meiosis involves
halving the normal chromosome number - the pairs of chromosomes are separated.
 During meiosis, the new cells get a mixture of homologous chromosomes from father and mother.
 A sperm cell of an individual could contain a chromosome 1 from father and a chromosome 2 from
mother.
 There are all sorts of combinations; gametes are genetically different from the parent cells.
 Meiosis produces genetic variation.
 When ova are formed in a woman, all the ova will carry an X chromosome. When sperm are formed
in a man, half the sperm will carry an X chromosome; half will carry a Y chromosome.

Fig. meiosis cell division

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IGCSE Biology Examination Year 2022-2023

Monohybrid inheritance

Some Important Definitions

10. Genotype: genotype is the genetic make-up of an organism in terms of the alleles present.
11. Phenotype: phenotype is the observable features of an organism.
12. Homozygous: homozygous is having two identical alleles of a particular gene.
13. Heterozygous: heterozygous is having two different alleles of a particular gene
14. Dominant allele: dominant is an allele that is expressed if it is present.
15. Recessive allele: Recessive is an allele that is only expressed when there is no dominant allele of the
gene present
16. Sex-linked characteristic: sex-linked characteristic is a characteristic in which the gene responsible is
located on a sex chromosome and that this makes it more common in one sex than in the other.
17. Pure breeding: In genetics, pure breeding involves creating offspring by mating two parents that are
genetically similar.
18. Monohybrid cross: A monohybrid cross is the study of the inheritance of one characteristic.
19. Co-dominance : A form of dominance in which the alleles of a gene pair in a heterozygote are fully
expressed thereby resulting in offspring with a phenotype that is neither dominant nor recessive.
e.g. a person having A allele and B allele will have a blood type AB because both the A and B
alleles are co-dominant with each other.

20. test·cross: A cross between an individual exhibiting the dominant phenotype of a trait and an
individual that is homozygous recessive for that trait in order to determine the genotype of the
dominant individual.
21. Punnett square: The Punnett square is a diagram that is used to predict an outcome of a particular
cross or breeding experiment. It is named after Reginald C. Punnett, who devised the approach. The
diagram is used by biologists to determine the probability of an offspring having a particular
genotype.

Motiour Rahman Khan


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IGCSE Biology Examination Year 2022-2023

A monohybrid cross involves the crossing of individuals and the examination of one (mono) character
(flower colour, pod shape ) and different (hybrid) traits (red colour, white colour) in their offspring.

The Punnett square is a useful tool for predicting the genotypes and
phenotypes of offspring in a genetic cross involving Mendelian traits.

Mendel crossed true-breeding plants that differed for a given character.


Pollen from true-breeding pea plants with purple flowers (one trait) was
placed on stigmas of true-breeding plants with white flowers (another
trait).
The F1 seeds were all purple; the white flower trait failed to appear at
all. Because the purple flower trait completely masks the white flower
trait when true-breeding plants are crossed, the purple flower trait is
called dominant, and the white flower trait is called recessive.
The F1 plants were allowed to self-pollinate. This step was the
monohybrid cross. (or the F1 cross). The progeny, called F2, were
examined: roughly 1/4 were white, and 3/4 were purple.

All the genetic crosses shown below will involve examples using
pea plants, which can be tall (T) of dwarf (t) – tall is dominant to
dwarf.

Examiner’s tips
 When you write out a genetic cross, make sure you state what
the symbols represents, e.g. T=tall, t=dwarf.
 Make sure you label each line in the cross (phenotype,
genotype…).
 It’s a good idea to circle gametes to show that meiosis has
happened.
 Read the question really carefully – are you asked to state the
outcome in terms of the genotype or the phenotype?

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IGCSE Biology Examination Year 2022-2023

Punnett square

1. A cross between a pure-breeding


tall pea plant and a pure-breeding
dwarf pea plant.

As tall is dominant to dwarf, and both


plants are pure-breeding, their
genotypes must be TT and tt.

tall

2. A cross between
two heterozygous tall pea plant.

The genotype of both plants must


be Tt.

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IGCSE Biology Examination Year 2022-2023

3. A cross between
A heterozygous tall pea plant and
dwarf pea plant.

The hetetozygous tall pea plants


must be Tt.
The dwarf pea plants must be tt.

Codominance and inheritance of blood group:

Sometimes, neither of a pair of alleles is completelydominant or


completely recessive. Instead of one of
them completely hiding the effect of the other in a heterozygote,
they both have an effect on the
phenotype. This is called codominance.

The result is that there can be three different phenotypes. When


writing the genotypes of codominant alleles, the common
convention is to use a capital letter to represent the gene
involved, and a small raised letter for each
phenotype. Imagine a kind of flower which has two alleles for
flower colour. The allele Cw produces white flowers, while the allele CR produces red ones. If these
alleles show codominance, then the genotypes and phenotypes are:

genotype phenotype

Cw Cw white flowers
Cw CR pink flowers
CR CR red flowers

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IGCSE Biology Examination Year 2022-2023

Inheritance of A, B, AB and O blood group - an example of Codominance

 In humans, there are 4 blood types (phenotypes): A, B, AB, and O


 Blood type is controlled by 3 alleles: IA, IB, IO (the base letter = I stands for immunoglobulin)
 IO is recessive, two IO alleles must be present for the person to have type O blood
 IA and IB are codominant but both are dominant to Io. If a person receives an IA allele and a IB allele,
their blood type is type AB, in which characteristics of both A and B antigens are expressed. Because
IO is dominated by both IA and IB alleles, a person with blood group A could have the genotype IA IO
or IA IA. This has implication when having children because, if both parents carry the IO allele, a child
could be born with the genotype IOIO (blood group O), even though neither of the parents have this
phonotype.

Fig. genes on X and Y chromosomes

 Genes that are found only on the non-homologous parts of the X or Y chromosomes are
called sex-linked genes.

Motiour Rahman Khan


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IGCSE Biology Examination Year 2022-2023

Example of sex-linkage in humans.

 Colour blindness-

 A sex linked gene controls the production of three kinds of cone cells in the retina.
 The recessive allele of this gene b, results in the production of only two types of cone cells.
 A person who is homozygous recessive for this allele cannot differentiate red and green
colour and are said to be red-green Colour- blind.
 This condition is much more common in male than in female.

Possible genotypes and their phenotypes for red-green colour-blindness:

Genotype phenotype
1 XB XB Woman with normal vision
2 XB Xb Woman with normal vision but she is carrier the allele
3 Xb Xb Woman with red-green colour blindness
4 XB Y Man with normal vision
5 Xb Y Man with red-green colour blindness

Use genetic diagrams to predict the results of sex linkage of colour blindness from different genotypic
male and female and calculate phenotypic ratios.

Example

i. Inheritance of sex-linked characteristics (colour blindness) to the offspring from carrier mother
and normal father.

Parents’ phenotypes: normal man carrier woman

Parents’ genotypes: XB Y XB Xb

Gametes: XB or Y XB or Xb

Genetic diagram

XB Xb Offspring genotype and phenotypes


XB XB normal female
B B B B b
X X X X X
XB Xb carrier female

Y XB Y Xb Y XB Y normal male
Xb Y red-green colour blind male
Phenotype ratio: normal: carrier: colour blind꞊ 2:1:1

Motiour Rahman Khan


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IGCSE Biology Examination Year 2022-2023

 Haemophilia:
 Haemophilia is an inherited disease which affects the blood's ability to clot.
 Normally, when you cut yourself, substances in the blood known as clotting factors (Factor VIII)
combine with blood cells called platelets to make
the blood sticky and stop bleeding.
 People with haemophilia don't have as many
clotting factors as there should be in the
blood. This means they bleed for longer than
usual.
 Gene for factor VIII on X chromosome
 Most people who have haemophilia are male.

Use genetic diagrams to predict the results of sex linkage of haemophilia and calculate phenotypic ratios.

Motiour Rahman Khan


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IGCSE Biology Examination Year 2022-2023

Interpret pedigree diagrams for the inheritance of a given characteristic

Pedigree diagram or chart: A pedigree chart is a diagram that shows the occurrence and appearance or
phenotypes of a particular gene or organism and its ancestors from one generation to the next most
commonly humans.

Pedigree chart for colour blindness

Refer to the following graph. A pedigree was established to trace the colorblindness allele through four
generations.

Motiour Rahman Khan


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IGCSE Biology Examination Year 2022-2023

1. Based on the pedigree above, what is the probability that a male child born to individuals 6 and 7 will
be color-blind?

2. In this family tree, individual 2 can best be classified as a

(A) normal male

(B) normal noncarrier female

(C) color-blind male

(D) carrier female

(E) color-blind female

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