Chapter 17 Inheritance

CHROMOSOMES
17.1 GENES AND PROTEINS
CHAPTER 17
Chapter 17 - Inheritance 17.1 - Chromosomes, genes and proteins
CONTENTS
16 Reproduction
16.1 Asexual reproduction
16.2 Sexual reproduction
16.3 Sexual reproduction in plants
16.4 Sexual reproduction in humans
16.5 Sexual hormones in humans
16.6 Sexually transmitted diseases
17 Inheritance
17.1 Chromosomes, genes and proteins
17.2 Mitosis
17.3 Meiosis
17.4 Monohybrid inheritance
18 Variation and selection

18.1 Variation
18.2 Adaptive features
18.3 Selection
19 Organisms and their environment

19.1 Energy flow
19.2 Food chains and food webs
19.3 Nutrient cycles
19.4 Populations
20 Human influences on ecosystems

CORE
Inheritance
Inheritance
• the transmission of genetic information from generation to generation
• genetic information is passed on in the form of DNA
DNA stands for deoxyribonucleic acid

CORE
Chromosomes, genes and proteins
DNA
Chromosomes
• the nuclei of cells contain chromosomes
• chromosomes are made of DNA
• DNA contains genetic information in the form of genes gene
Chromosomes are made DNA contains genetic information in the

of DNA form of genes
gene
NUCLEUS
gene
Each chromosome is made of a single strand of DNA

DNA is located in the chromosomes of the cell nucleus CORE
CORE
Chromosomes
• DNA contains genetic information in the form of genes
Gene
• a length of DNA that codes for a protein
Gene Protein Trait Melanin is the direct pigment made of

amino acids providing hair color.
Proteins like enzyme tyrosinase

catalyze the production of this melanin
then transfer to hair cells, thus
determining the hair color.
Genes code for proteins and therefore determine the expression
of characteristics (e.g. eye colour, hair colour, height, blood type)
DNA - deoxyribonucleic acid

Each gene comes in different versions called alleles CORE
E.g. there are different alleles for the gene that determines blood type
Blood types are determined by specific proteins called antigens on the outer layer of red blood cells.
CORE
Chromosomes
• DNA contains genetic information in the form of genes
Gene
• a length of DNA that codes for a protein
Allele
• an alternative form of a gene
E.g. There are different alleles of the gene

that determines eye colour - one codes for
brown eyes and one for blue
CORE
23
chromosomes
46
chromosomes
body cell
sex cells (gametes)
• A human body cell nucleus contains 46 chromosomes (23 pairs)

• When gametes are produced the pairs of chromosomes divide
• This means that each sperm and egg cell contains 23 individual chromosomes
CORE
SPERM OVUM ZYGOTE
23 23 46
chromosomes chromosomes chromosomes
• During fertilisation, two gametes fuse to form a zygote

• The zygote contains two complete sets of chromosomes (one from the mother and one from the father)
CORE
one pair of chromosomes called the sex

chromosomes determine gender
You need to describe the inheritance of sex in humans with reference to X and Y chromosomes
CORE
Inheritance of sex in humans
• one pair of chromosomes determines sex (gender)
• these chromosomes are referred to as the sex chromosomes
Males
• have one X chromosome and one Y chromosome (XY)
• 50% of sperm carry an X (female) chromosome
• 50% of sperm carry a Y (male) chromosome
Females
• have two X chromosomes (XX)
• every ovum carries an X chromosome
MALE FEMALE
CORE
Inheritance of sex in humans
• one pair of chromosomes determines sex (gender)
• these chromosomes are referred to as the sex chromosomes
Males
• have one X chromosome and one Y chromosome (XY)
• 50% of sperm carry an X (female) chromosome
• 50% of sperm carry a Y (male) chromosome
Females
• have two X chromosomes (XX)
• every ovum carries an X chromosome
• If a sperm cell carrying an X chromosome fertilises the ovum,

the zygote will be XX and will develop into a female
• If a sperm cell carrying a Y chromosome fertilises the egg, the
zygote will be XY and will develop into a male
X or Y
always X
CORE
PARENTS
SEX CHROMOSOMES
XY XX
GAMETES
X Y X X
OFFSPRING
XX XX XY XY
female female male male
EXTENDED
• the sequence of bases in a gene determines the sequence of amino acids used to make a specific protein
DNA base amino acids

sequence
codon
Glutamine
Aspartic
A gene’s base sequence instructs cells to assemble amino acids in a specific order
EXTENDED
• the sequence of bases in a gene determines the sequence of amino acids used to make a specific protein
• different sequences of amino acids give different shapes to protein molecules
• a protein’s shape determines its structure and function

• DNA therefore controls cell function by controlling which proteins are produced
EXTENDED
• DNA controls cell function by controlling the production of proteins, including enzymes, membrane carriers and
receptors for neurotransmitters.
• Enzymes control the chemical reactions in cells (see ch 5)

• Membrane carriers control which substances can enter or leave the cell (see ch 3)
• Receptors for neurotransmitters allow electrical impulses to be transmitted from
neurone to neurone (see ch 14)
EXTENDED
Protein synthesis
2) Messenger RNA (mRNA) is a copy of a
1) The gene coding for the
gene
protein remains in the nucleus
Cytoplasm
Nucleus 3) mRNA molecules are made in the

nucleus and move to the cytoplasm
5) The ribosome assembles amino

4) The mRNA passes through acids into protein molecules
ribosomes
6) The specific sequence of amino acids is
determined by the sequence of bases in the mRNA
EXTENDED
mRNA is a copy of a gene. It allows genetic information to be transferred from

the cell nucleus, to ribosomes in the cytoplasm where proteins are synthesised
EXTENDED
Gene expression
• 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
• When a protein is needed by a cell, the corresponding gene is expressed

• When a protein is not needed, the corresponding gene is not expressed
EXTENDED
Gene expression
• 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
Liver cells express genes that produce enzymes (cytochrome) Muscle cells primarily express genes related to muscle contraction
involved in metabolism and detoxification and energy production (Actin)
EXTENDED
Haploid
• a haploid nucleus is a nucleus containing a single set of chromosomes
• gametes (sex cells) are haploid
• human haploid cells have 23 chromosomes
Diploid
• a diploid nucleus is a nucleus containing two sets of chromosomes
• most body cells are diploid
• in a diploid cell, there is a pair of each type of chromosome
• human diploid cells have 23 pairs (46 chromosomes)
HAPLOID DIPLOID
23 46
chromosomes chromosomes
EXTENDED
HAPLOID HAPLOID DIPLOID

sperm ovum zygote
23 23 46
chromosomes chromosomes chromosomes
17.2 MITOSIS
CHAPTER 17
Chapter 17 - Inheritance 17.2 - Mitosis
CONTENTS
16 Reproduction
17 Inheritance
17.2 Mitosis
17.3 Meiosis

18.1 Variation
18.3 Selection

19.1 Energy flow
19.4 Populations

EXTENDED
Mitosis
Mitosis - nuclear division giving rise to genetically identical cells
Daughter cells
Cells divide
Chromosomes separate
Chromosomes replicate
Parent cell
Details of the stages of mitosis are not required

EXTENDED
Nuclear division occurs during both mitosis and meiosis and is the process of the nucleus from
one cell dividing and separating to form two new cells
EXTENDED
Mitosis
Mitosis - nuclear division giving rise to genetically identical cells
• the exact replication of chromosomes occurs before mitosis
• during mitosis, the copies of chromosomes separate, maintaining the chromosome number in each daughter cell
daughter
Cells divide
Chromosomes separate
46
Chromosomes replicate
46
parent
46
daughter
MITOSIS of a human diploid cell (containing 46 chromosomes) will result in the formation of two identical
daughter cells (each with 46 chromosomes)
EXTENDED
Mitosis
Role of mitosis
• growth
• repair of damaged tissues
• replacement of cells
• asexual reproduction
Mitosis helps organisms increase in size by producing new cells New cells produced by mitosis are used to promote healing
EXTENDED
Mitosis is essential for growth. For example, after fertilisation the zygote divides continually, developing first into an embryo, then a fetus and finally a
fully formed organism made up of trillions of cells
EXTENDED
Mitosis
Role of mitosis
• growth
• repair of damaged tissues
• replacement of cells
• asexual reproduction
Mitosis continually replaces old cells, ensuring proper tissue and organ Mitosis is involved in the production of genetically identical offspring
function from one parent
EXTENDED
Red blood cells have an average life span of around 120 days and must therefore be regularly replaced
EXTENDED
Mitosis
Stem cells
• unspecialised cells that divide by mitosis to produce daughter cells that can become specialised for specific functions
DAUGHTER CELLS
MITOSIS
Becomes a specialised
STEM CELL
cell
Retains ability to divide
Example - haematopoietic stem cells are found in bone marrow. They divide continually to produce a range of blood cells
including red blood cells, phagocytes and lymphocytes.
EXTENDED
A zygote is a stem cell. It divides by mitosis, to produce all kinds of specialised body
cells during early development
17.3 MEIOSIS
CHAPTER 17
Chapter 17 - Inheritance 17.3 - Meiosis
CONTENTS
16 Reproduction
17 Inheritance
17.2 Mitosis
17.3 Meiosis

18.1 Variation
18.3 Selection

19.1 Energy flow
19.4 Populations

EXTENDED
Meiosis
Meiosis - a reduction division in which the chromosome number is halved from diploid to haploid resulting
in genetically different cells
DIPLOID CELL HAPLOID CELLS
Details of the stages of meiosis are not required

EXTENDED
Meiosis is involved in the production of gametes and therefore occurs in the testes
and ovaries in mammals and in the anthers and ovules of flowering plants (see ch 16)
EXTENDED
Meiosis is involved in the production of gametes and therefore occurs in the testes
and ovaries in mammals and in the anthers and ovules of flowering plants (see ch 16)
EXTENDED
Meiosis
Meiosis - a reduction division in which the chromosome number is halved from diploid to haploid resulting
in genetically different cells
• meiosis is involved in the production of gametes
23 FERTILISATION
Sperm producing cell

46 Sperm
23 Diploid zygote
23
2 haploid gametes
46
23
23
Ovum producing cell
46 Ova (only one develops)
EXTENDED
After fertilisation the diploid zygote continues to divide by mitosis

Notebook!
1. Define the term inheritance.

2. Explain the role of DNA in inheritance.
3. Explain the concept of alleles and how they affect the phenotype of an
organism. Use the blood type gene as an example to explain how different alleles
influence the phenotype.
4. Explain the difference in chromosome number between a human body cell and
a gamete.
5. Describe the process of fertilization and explain how the zygote's chromosome
number is determined.
Notebook!
1 Inheritance is the transmission of genetic information from one generation to the next through DNA.
2 DNA plays a crucial role in inheritance as it contains the genetic instructions used in the development, functioning, and
reproduction of all known organisms. DNA is structured into genes, which encode specific traits.
3 Alleles are different versions of the same gene. Phenotypes, or physical expressions of genetic traits, vary depending
on the combination of alleles inherited from parents. For instance, the blood type gene has alleles A, B, and O. Blood type
A (genotype AA or AO) results in the presence of A antigens on red blood cells, blood type B (genotype BB or BO) in B
antigens, and blood type O (genotype OO) lacks these antigens, affecting the blood type phenotype.
4. Human body cells are diploid, containing 46 chromosomes (23 pairs), while gametes (sex cells) are haploid, containing
23 individual chromosomes. This reduction in number occurs during meiosis.
5. Fertilization occurs when a sperm cell (male gamete) and an ovum (female gamete) merge. Each gamete carries 23
chromosomes, and upon fertilization, these combine to form a zygote with 46 chromosomes (23 pairs). This restores the
diploid state, ensuring genetic continuity.
MONOHYBRID
17.4 INHERITANCE
CHAPTER 17
Chapter 17 - Inheritance 17.4 - Monohybrid inheritance
CONTENTS
16 Reproduction
17 Inheritance
17.2 Mitosis
17.3 Meiosis

18.1 Variation
18.3 Selection

19.1 Energy flow
19.4 Populations

CORE
Monohybrid inheritance
Inheritance
• the transmission of genetic information from generation to generation
• genetic information is passed on in the form of DNA
DNA stands for deoxyribonucleic acid

CORE
Genotype
• the genetic make-up of an organism including all of its alleles
GENE
Allele for blue eyes Allele for brown

eyes
from mother from father
Chromosomes come in pairs, so we inherit two alleles of each gene

CORE
Genotype
• the genetic make-up of an organism including all of its alleles
Father Sperm
GENOTYPE
Zygote
fertilisation (offspring)
Mother Ova
An organism’s genotype determines its inherited characteristics

CORE
Phenotype
• the observable features of an organism
Father Sperm
GENOTYPE PHENOTYPE
Zygote
fertilisation (offspring)
Mother Ova
Generally, only one allele of each gene is expressed in an organism’s phenotype

CORE
Phenotype refers to both the features that can be seen (e.g. eye colour) and those
that cannot (e.g. blood type)
CORE
Dominant allele
• an allele that is expressed if it is present in the genotype
• represented by a capital letter
Allele for blue eyes Allele for brown

(recessive) b B eyes (dominant)
GENOTYPE: Bb
PHENOTYPE:
The dominant allele overrides the recessive allele

CORE
Recessive allele
• an allele that is only expressed when there is no dominant allele of the gene present in the genotype
• represented by a lowercase letter
Allele for blue eyes Allele for blue eyes

(recessive) b b (recessive)
GENOTYPE: bb
PHENOTYPE:
CORE
Homozygous
• having two identical alleles of a particular gene
Homozygous dominant Homozygous recessive
BB bb
PHENOTYPE:
CORE
Homozygous
• having two identical alleles of a particular gene
• two identical homozygous individuals that breed together will be pure-breeding
Pure breeding
father mother
Parents bb bb
Gametes b b b b
Homozygous recessive
Zygote bb
Phenotype
CORE
Pure-breeding - all offspring will have the same genotype and phenotype as the parents
CORE
Heterozygous
• having two different alleles of a particular gene
Bb Bb
Dominant allele (B) is

expressed in
phenotype
CORE
Heterozygous
• having two different alleles of a particular gene
• a heterozygous individual will not be pure-breeding
father mother
BB bb
B B b b
Bb Heterozygous
will not be pure breeding

CORE
A heterozygous individual will not be pure-breeding

CORE
Monohybrid crosses
Crossing a heterozygous individual with a homozygous recessive individual results in a 1:1 phenotypic ratio (50% of offspring
will have brown fur and 50% black)
Heterozygous black Homozygous brown

male female
Alleles
B
Parents Bb bb
b
Meiosis
Gametes B b b b
Fertilisation
Possible zygotes Bb Bb bb bb Genotype
Offspring (F1) Phenotype
Phenotypic ratio - 1:1 (black:brown)

CORE
Monohybrid crosses
Crossing two heterozygous individuals results in a 3:1 phenotypic ratio in favour of the dominant trait (75% of offspring will
have black fur and 25% brown)
Heterozygous black Heterozygous black

male female
Alleles
B
Parents Bb Bb
b
Meiosis
Gametes B b B b
Fertilisation
Possible zygotes BB Bb Bb bb Genotype
Offspring (F1) Phenotype
Phenotypic ratio - 3:1 (black:brown)

CORE
Punnett squares
Punnett squares are used to calculate the outcomes of genetic crosses
Dominant allele
P (purple)
Recessive allele
p (white) pp Parental genotype
p p Gametes
P Pp
Pp
Potential zygotes
Parental genotype
p
CORE
Punnett squares
Dominant allele
P (purple)
Recessive allele
p (white) pp Parental genotype
p p Gametes
POTENTIAL ZYGOTES
P Pp Pp
Pp purple
Pp
Potential zygotes
pp white
p pp pp
Phenotypic ratio - 1:1 (purple:white)

CORE
Punnett squares
Dominant allele
P (purple)
Recessive allele
p (white) Pp Parental genotype
P p Gametes
P
Pp
Potential zygotes
Parental genotype
p
CORE
Punnett squares
Dominant allele
P (purple)
Recessive allele
p (white) Pp Parental genotype
P p Gametes
POTENTIAL ZYGOTES
P PP Pp
PP purple
Pp
Potential zygotes
Pp purple
p Pp pp
Pp purple
pp white
Phenotypic ratio - 3:1 (purple:white)
CORE
Pedigree diagrams
A pedigree diagram is a visual representation of the inheritance pattern of a specific trait or characteristic within a family
or group of individuals
• Each generation is represented by a horizontal row
Unaffected female Unaffected male Female carrier
Affected female Affected male Male carrier

CORE
Cystic fibrosis is an inherited disease coded for by a recessive allele

CORE
Pedigree diagrams
• If an individual inherits the condition, both parents must be carriers (heterozygous) if not affected themselves

CORE
Pedigree diagrams
• If two carriers mate:
⚬ 25% chance that offspring will be affected
⚬ 3:1 phenotypic ratio (no disease:affected)

EXTENDED
Test cross
A test cross is used to identify an unknown genotype
• a mouse with black fur could have the genotype BB (homozygous dominant) or Bb (heterozygous)
BB/Bb
• By crossing the mouse with a known homozygous recessive mouse (bb), it is possible to determine the genotype
BB/Bb bb
• If the mouse is homozygous (BB), all offspring will be heterozygous black mice (Bb)
• If the mouse is heterozygous (Bb), 50% of offspring will be heterozygous black mice (Bb) and 50% will be homozygous
brown mice (bb)
If any offspring have brown fur, the black mouse must be heterozygous (Bb)
EXTENDED
Test cross
Homozygous
Alleles
B
BB
b
B B
b Bb Bb
bb
b Bb Bb
100% heterozygous black mice (Bb)

EXTENDED
Test cross
Heterozygous
Alleles
B
Bb
b
B b
b Bb bb
bb
b Bb bb
50% heterozygous black mice (Bb)

50% homozygous brown mice (bb)
EXTENDED
Codominance
Codominance is a situation in which both alleles in heterozygous organisms contribute to the phenotype
• the inheritance of ABO blood groups is an example of codominance
Alleles: IA I B
Genotype: IAI B
Phenotype: Both alleles are expressed

EXTENDED
Codominance
Codominance is a situation in which both alleles in heterozygous organisms contribute to the phenotype
• the inheritance of ABO blood groups is an example of codominance
Possible Possible
Alleles genotypes phenotypes
IA IAI B
codominant
I B
IAI A
IAI O
recessive IO IBI B
IBI O
IO I O
If a person inherits alleles for blood groups A and B from their parents, their blood group will be AB, because A and B are
codominant
EXTENDED
Codominance
You need to use genetic diagrams to predict the results of monohybrid crosses involving codominance and calculate
phenotypic ratios
Alleles
IA
codominant IAI O Parental genotype
B
I
IA IO Gametes
recessive IO
IB
B O Potential zygotes
Parental genotype
I I
IO
Phenotypic ratio -
EXTENDED
Codominance
phenotypic ratios
Alleles
IA
B
I
IA IO Gametes
recessive IO
IB IAI B
IB I O
B O Potential zygotes
Parental genotype
I I
IO IA I O IO I O
Phenotypic ratio - 1:1:1:1 (A:B:O:AB blood groups)

EXTENDED
Codominance
phenotypic ratios
Alleles
IA
B
I
IA IO Gametes
recessive IO
IA
A O Potential zygotes
Parental genotype
I I
IO
Phenotypic ratio -
EXTENDED
Codominance
phenotypic ratios
Alleles
IA
B
I
IA IO Gametes
recessive IO
IA IAI A
IA I O
A O Potential zygotes
Parental genotype
I I
IO IA I O IO I O
Isoagglutinogen (represents
the gene for blood type)
Phenotypic ratio - 3:1 (A:O blood groups)

EXTENDED
Sex linkage
Sex-linked characteristic
• a feature in which the gene responsible is located on a sex chromosome
• this makes the characteristic more common in one sex than in the other
FEMALES MALES
The Y chromosome is shorter than the X

chromosome
In addition to carrying genes related to sexual development, the sex chromosomes also carry genes that code for other
characteristics
EXTENDED
Sex linkage
Males
Alleles on X chromosome are

Some alleles are missing on the Y
always expressed
chromosome
in males, the allele on the X chromosome is certain to be expressed (even if recessive) due to the lack of a corresponding allele on the
Y chromosome
EXTENDED
Sex linkage
Females
Dominant allele is expressed if

present
In females the chances of a recessive allele being expressed are much lower, as the allele on the other X chromosome could
be dominant
EXTENDED
red-green colour blindness is an example of sex linkage

EXTENDED
Sex linkage
Red-green colour blindness is an example of sex linkage
• the allele is only present on the X chromosome and is recessive
• this makes the trait more common in males than females
Inheritance of colour blindness - example
XC Normal allele
X CX
c Female carrier
c
X Colourblind allele
c
XC X Gametes
XC
X CY
Potential zygotes
Male with healthy colour vision
Phenotypic ratio -
EXTENDED
Sex linkage
Red-green colour blindness is an example of sex linkage
• the allele is only present on the X chromosome and is recessive
• this makes the trait more common in males than females
Inheritance of colour blindness - example
XC Normal allele
X CX
c Female carrier
c
X Colourblind allele
c
XC X Gametes
c
XC X CX C X CX
X CY
Potential zygotes
Male with healthy colour vision
c
Y X CY X Y colourblind
Phenotypic ratio - 3:1 (normal:colourblind)

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CHROMOSOMES

17.1 GENES AND PROTEINS

18 Variation and selection

19 Organisms and their environment

20 Human influences on ecosystems

DNA stands for deoxyribonucleic acid

Chromosomes are made DNA contains genetic information in the

Each chromosome is made of a single strand of DNA

Gene Protein Trait Melanin is the direct pigment made of

Proteins like enzyme tyrosinase

DNA - deoxyribonucleic acid

E.g. There are different alleles of the gene

sex cells (gametes)

• A human body cell nucleus contains 46 chromosomes (23 pairs)

SPERM OVUM ZYGOTE

• During fertilisation, two gametes fuse to form a zygote

one pair of chromosomes called the sex

• If a sperm cell carrying an X chromosome fertilises the ovum,

DNA base amino acids

• a protein’s shape determines its structure and function

• Enzymes control the chemical reactions in cells (see ch 5)

Nucleus 3) mRNA molecules are made in the

5) The ribosome assembles amino

mRNA is a copy of a gene. It allows genetic information to be transferred from

• When a protein is needed by a cell, the corresponding gene is expressed

HAPLOID HAPLOID DIPLOID

18 Variation and selection

19 Organisms and their environment

20 Human influences on ecosystems

Details of the stages of mitosis are not required

• the exact replication of chromosomes occurs before mitosis

Retains ability to divide

18 Variation and selection

19 Organisms and their environment

20 Human influences on ecosystems

DIPLOID CELL HAPLOID CELLS

Details of the stages of meiosis are not required

• meiosis is involved in the production of gametes

Sperm producing cell

After fertilisation the diploid zygote continues to divide by mitosis

1. Define the term inheritance.

18 Variation and selection

19 Organisms and their environment

20 Human influences on ecosystems

DNA stands for deoxyribonucleic acid

Allele for blue eyes Allele for brown

from mother from father

Chromosomes come in pairs, so we inherit two alleles of each gene

An organism’s genotype determines its inherited characteristics

Generally, only one allele of each gene is expressed in an organism’s phenotype

Allele for blue eyes Allele for brown

The dominant allele overrides the recessive allele

Allele for blue eyes Allele for blue eyes

Homozygous dominant Homozygous recessive

Dominant allele (B) is

will not be pure breeding

A heterozygous individual will not be pure-breeding

Heterozygous black Homozygous brown

Possible zygotes Bb Bb bb bb Genotype

Offspring (F1) Phenotype