Inheritance

Chapter 16
17.1: Inheritance
Core
• State that chromosomes are made of DNA, which
contains genetic information in the form of genes.
• Define a gene as a length of DNA that codes for a
protein.
• Define an allele as an alternative form of a gene
17.1: Inheritance
Supplement
• State that the sequence of bases in a gene
determines the sequence of amino acids used to
make a specific protein (knowledge of the details of
nucleotide structure is not required)
17.1: Inheritance
Supplement
• Explain that different sequences of amino acids give
different sequences of amino acids give different
shapes to protein molecules
• Explain that DNA controls cell function by controlling
the production of proteins, including enzymes,
membrane carriers and receptors for
neurotransmitters
17.1: Inheritance
Supplement
• Explain how a protein is made, limited to:
– the gene coding for the protein remains in the nucleus
– messenger RNA (mRNA) is a copy of a gene
– the mRNA passes through ribosomes
– the ribosomes assembles amino acids is determined
by the sequence of bases in the mRNA
17.1: Inheritance
Supplement
• Explain that most body cells in an organism contain
the same genes, but many genes in a particular cell
are not expressed because the cell only makes the
specific proteins it needs
• Describe a haploid nucleus as a nucleus containing a
single set of chromosomes
17.1: Inheritance
Supplement
• Describe a diploid nucleus as a nucleus containing
two sets of chromosomes
• State that in a diploid cell, there is a pair of each type
of chromosomes and in a human diploid cell there
are 23 pairs
Definition

Allele A version of a gene

Blood group Classification of blood type as A, B, AB, or O based

on surface antigens on red blood cells and the
presence of certain antibodies in the plasma. Blood
group is controlled by three alleles, IA, IB and IO
Chromosome A long, coiled molecule of DNA that carries genetic
information in the form of genes
Definition

Codominance When both alleles for a gene in a heterozygous

organisms equally contribute to the phenotype

Colour blindness An X-linked recessive condition characterized

by the inability to distinguish between
colours. It is more common among males
because they only inherit one X
chromosomes.
Definition

Diploid cell A cell that contains a pair of each

chromosomes type ex. human diploid cell has
23 pairs of chromosomes
Diploid nucleus A nucleus that contains two copies of each
chromosomes (ex. a full set of chromosomes
Definition

Dominant Describes an allele that is always expressed.

Represented by a capital letter

Gametes Sex cells (sperm and egg cells) with half the usual
number of chromosomes.
Gene A length of DNA on a chromosome that codes to
produce a specific protein.
Definition

Gene expression All specialised cells contain the same set of

genes, but only the genes required to code
for certain proteins as switched on in any
given cell.
Genetic code The rules by which the sequence of bases in a
gene codes for the sequence of amino acids in a
specific protein.
Definition

Genotype An organism’s genetic composition. Describes all

alleles.

Haploid nucleus A nucleus that contains a single copy of each

chromosomes (ex. half the number of
chromosomes
Definition

Heterozygous When someone has two different alleles of a

gene (ex. Ff)

Homozygous When someone has two identical alleles of a

gene (ex. ff)

Inheritance The transmission of genetic information from one

generation to the next.
Definition

Meiosis A form of nuclear division that produces four

genetically different daughter cells (gametes). It
involves two divisions. Chromosome number is
halved, resulting in haploid cells.
Mitosis
A form of nuclear division that produces two genetically
identical daughter cells from one parent cell. The copies of
chromosomes are separated, maintaining the diploid
chromosomes number. Mitosis is important in the growth,
repair and replacement of cells, as well as asexual reproduction
Definition

Monohybrid inheritance The inheritance of a single gene

mRNA A polymer of nucleotides that carries genetic
information from the nucleus to the ribosomes
during protein synthesis.
Pedigree diagram A chart used to show the inheritance of
a given characteristics in a family.
Definition

Phenotype An organism’s observable characteristics due to

Punnett square A grid used to predict the potential outcomes
of a genetic cross

Pure breeding A type of breeding in which all the offspring

carry the same phenotype as the parents.
This occurs when two identical homozygous
individual are crossed.
Definition

Recessive Describes an allele that is only expressed in the

absence of a dominant allele. Represented by a
small letter

Ribosomes Sub-cellular structures that are the site of protein

synthesis
 Definition

Sex-linked characteristics A pair of chromosomes responsible

for the determination of gender. XY
in males, XX in females

Stem cells Cells that are unspecialized and capable of dividing

by mitosis to produce a range of different cell types.
Definition
An individual with a dominant phenotypes is crossed
Test cross with a homozygous recessive individual. The ratio of
offspring indicates the genotypes of the dominant
individual.

Variation The different between individual due to genes, the

environment or a combination of both.
 Chromosomes, genes, and proteins
A chromosome is a structure
made of DNA and proteins that
carries genetic information
essential for growth,
development, and functioning in
an organism

Diploid cells – 23 pairs

Haploid cells – 46 chromosomes
Structure of a chromosome
Chromosomes are made up of
DNA coiled around proteins called
histones.
Chromatids – 2 exact copies of
DNA that makes up a
chromosome
Centromere – Place where
chromatids are attached to form a Chromosome
chromosome
Homologous Chromosome
Homologous Chromosome are pairs of
chromosomes – one comes from male
parent, one comes from female parent
that have the same genes in the same
order but may carry different alleles
(gene variations)
Karyotype
Karyotype
A Karyotype is an organized profile
of an individual chromosomes,
arranged in pairs by size and shape.
It is used to identify chromosomal
abnormalities, such as extra or
missing chromosomes.
Karyotype
abnormalities

1. Down Syndrome (Trisomy 21)

• Description: An individual has
three copies of Chromosome
21 instead of the usual two.
• Effects: Intellectual
disabilities, distinct facial
features, and increased risk
of certain health issues like
heart defects.
 Karyotype
abnormalities

2. Turner Syndrome
(Monosomy X)
• Description: A female has only one X
chromosome (45, X) instead of two
sex chromosomes (46, XX).
• Effects: Short stature, infertility, and
some physical differences, such as a
webbed neck.
Karyotype
abnormalities
3. Klinefelter Syndrome (XXY)
• Description: A male has an
extra X chromosome (47,
XXY).
• Effects: Reduced
testosterone levels,
infertility, and sometimes
mild intellectual disabilities.
Karyotype
abnormalities

4. Patau Syndrome (Trisomy 13)

• Description: An individual has
an extra copy of Chromosome
13.
• Effects: Severe intellectual
disability, heart defects, and
physical abnormalities; most
affected individuals have a
shortened lifespan.
Karyotype
abnormalities
5. Edwards Syndrome (Trisomy 18)
• Description: An individual has
an extra copy of Chromosome
18.
• Effects: Severe developmental
delays, heart defects, and a
very short lifespan.
Karyotype abnormalities
6. Cri-du-chat Syndrome
(Deletion on Chromosome 5)

• Description: Part of
Chromosome 5 is missing
(deleted).
• Effects: Intellectual disability,
a high-pitched cry that sounds
like a cat, and distinct facial
features.
 Types of Chromosomes

• Autosomes – chromosomes that determine most body traits

and functions
• Sex chromosomes – determine biological sex in
animals, including humans (X and Y)
• XX – female
• XY - male
 Types of Chromosomes

• Inheritance of gender in humans – woman’s gamete can only

carry an “X” chromosome, and a male gamete can carry either
an “X” or “Y” chromosome; female are “XX” while males are
“XY”. There is always a 50% chance of getting a boy and vice
versa.
 Genes

• a length of DNA that is the unit of heredity and codes for a

specific protein.
• A gene may be copied and passed on to the next generation
 gene vs allele

• A gene is a specific region of DNA that codes for a trait, while

an allele is a variant form of a gene. For instance, the gene for
eye colour has different alleles that can produce brown or
blue eyes.
 How do genes affect traits?

• Genes contain the instructions to make proteins, which can

influence traits like eye colour, height, or even behaviour. The
combination of different alleles determines how these traits
are expressed.
 What is a dominant and a recessive gene?

• Dominant genes express their traits even if only one copy is

present, while recessive genes require two copies (one from
each parent) to show their effect.
• For example, brown eyes are often dominant over blue eyes,
so a person with one brown-eye gene and one blue-eye gene
will typically have brown eyes.
 What is a genotype and a phenotype?

• A genotype is the genetic makeup of an individual for a

particular trait, represented by the alleles they carry (like Bb
for brown eyes if B is dominant and b is recessive).
• A phenotype is the physical expression or appearance of that
trait (in this case, brown eyes).
 How do genes influence diseases?

• Some diseases are directly caused by genetic mutations, such

as cystic fibrosis or sickle cell anaemia. Other diseases, like
heart disease or diabetes, have a genetic component but are
also influenced by environmental factors.
Cystic fibrosis
• Cystic fibrosis (CF) is a genetic
disorder that primarily affects
the lungs and digestive
system. It's caused by
mutations in the CFTR (cystic
fibrosis transmembrane
conductance regulator) gene,
which leads to the production
of a faulty CFTR protein.
Anemia
• Anemia is a condition characterized
by a lack of enough healthy red
blood cells or haemoglobin, which is
necessary for carrying oxygen
throughout the body. When
someone has anemia, their tissues
and organs may not receive
adequate oxygen, leading to
symptoms like fatigue and
weakness.
 Can genes be altered or edited?

• Yes, gene-editing technologies, like CRISPR, allow scientists to

add, remove, or change parts of the DNA sequence. This can
potentially treat genetic disorders, but it also raises ethical
questions about its use, especially in humans.
Can genes be altered or edited?
 Revision

1. In which part of a cell is DNA found?

Answer: nucleus
2. Arrange these in order of size, smallest first:
cell, nucleus, DNA molecules, chromosome, gene
Answer: gene; DNA molecule; chromosome; nucleus;
cell
 Revision

3. Explain why your appearance is not the same

as the appearance of anyone else in the world.
Answer: We all have the same genes, but we have
different combinations of alleles of those
genes.
 Mitosis

• Proteins are large, complex molecules made up of chains of

amino acids. They play critical roles in the body, including
supporting structure, catalysing reactions, transporting
molecules, and regulating bodily functions.
 Protein

• Proteins are large, complex molecules made up of chains of

amino acids. They play critical roles in the body, including
supporting structure, catalysing reactions, transporting
molecules, and regulating bodily functions.
 Amino acids
• Amino acids are the building blocks of proteins. There are 20
different amino acids, and they can combine in various ways
to form a vast number of unique proteins. Nine of these
amino acids are essential, meaning they must be obtained
from food because the body cannot make them.
 9 essential amino acids
1. Histidine: Important for growth, repair of tissue, and maintaining
the protective barrier of nerve cells (myelin sheath).
2. Isoleucine: Helps with muscle metabolism, immune function, and
energy regulation.
3. Leucine: A key player in muscle protein synthesis and repair, it
also regulates blood sugar and supports the healing of bones and
muscles.
 9 essential amino acids

4. Lysine: Necessary for growth and tissue repair, lysine also aids in
the production of hormones, enzymes, and antibodies.
5. Methionine: Plays a role in metabolism and detoxification, as well
as aiding in the absorption of zinc and selenium.
6. Phenylalanine: Precursor for neurotransmitters like dopamine and
norepinephrine, which are important for mood, memory, and
mental alertness.
 9 essential amino acids

7. Threonine: Supports skin and connective tissues, and aids in fat

metabolism and immune function.
8. Tryptophan: A precursor to serotonin, which regulates mood,
sleep, and appetite.
9. Valine: Crucial for muscle growth, tissue repair, and energy
production.
 9 essential amino acids

Non-Essential Amino Acids (11)

These can be synthesized by the body: 10. Alanine 11. Arginine
(conditionally essential, especially in children) 12. Asparagine 13.
Aspartic acid (Aspartate) 14. Cysteine (conditionally essential) 15.
Glutamic acid (Glutamate) 16. Glutamine (conditionally essential) 17.
Glycine 18. Proline 19. Serine 20. Tyrosine (derived from
phenylalanine)
 Types of proteins

1. Structural Proteins: Such as collagen, which supports skin and

connective tissues.
2. Enzymes: Like amylase, which helps digest carbohydrates.
3. Transport Proteins: Such as haemoglobin, which carries oxygen in
the blood.
4. Hormonal Proteins: Like insulin, which regulates blood sugar
levels.
5. Antibodies: Part of the immune system, helping fight infections.
 How are protein made?

Proteins are made in cells through a process called protein synthesis,

which has two main steps:
1. Transcription: DNA is copied into mRNA in the nucleus.
2. Translation: mRNA is read by ribosomes in the cytoplasm, which
assemble amino acids in the correct order to form a protein.
 How are protein made?

In protein synthesis,
• Transcription is the process where the DNA sequence of a gene is
copied into messenger RNA (mRNA). This mRNA then carries the
genetic code from the nucleus (in eukaryotes) to the ribosomes in
the cytoplasm.
• In translation, the ribosome reads the mRNA sequence and
assembles amino acids in the correct order to build the protein.
Revision
 Revision

1. A cell that contains 32 chromosomes divides by mitosis.

How many chromosomes are there in each of the two
daughter cells produced?
Answer: 32
 Revision

2. Explain, in your own words, why it is important that the

two chromatids in a chromosome each contain exactly the
same genetic information.
Answer:
 Revision

Answer: This is so that, when the cell divides by mitosis,

each daughter cell gets an identical set of alleles – so that
the new cells are genetically identical. This is what is
required for growth,
repair of damaged tissues, replacement of cells and for
asexual reproduction.
 Revision

3. Before a human cell divides by mitosis, the 46

chromosomes each form two genetically identical
chromatids. Suggest why it is important that these two
chromatids remain held together until the cell is ready to
split into two
 Revision

Answer: With 46 chromosomes in the cell, there is

a lot of potential for them getting tangled
up together. By keeping the two identical
copies together, it becomes easier for them to
separate in an orderly way as the cell divides.
 Revision

4. Explain why meiosis is called a ’reduction division’.

Answer: The new cells produced have a reduced
number of chromosomes, compared with the parent cell.
 Revision

5. A cell has a diploid number of 28. How many

chromosomes will there be in each of the daughter cells
produced by meiosis?

Answer: 14
 Revision

6. Explain why it is important that human gametes are

produced by meiosis, and not by mitosis.
 Revision
Answer: Diploid cells in an organism’s body divide by
meiosis to produce gametes with a single set of
chromosomes. When two gametes fuse together, the
zygote has two sets. The zygote can then divide by mitosis,
producing cells that continue to divide, over and over
again, by mitosis, making all the diploid cells that form the
adult’s body.
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25. Explain how proteins are made by a cell.

 Revision
26. An embryo contains stem cells.
Complete the sentences about stem cells and body cells.

Stem cells are …………(1)……………… cells that divide by …………(2)……………… to

produce daughter cells that can become -----------(3)-------------------- for a specific

function. Most body cells in a organism contain the same genes, but many genes

in a particular cell are not ……………….(4)………………. because the cell only makes

the specific ……………….(5)…………….. it needs.

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