DNA, RNA, PROTEIN SYNTHESIS AND MEIOSIS 2021

REVISION OF THE STRUCTURE OF A

CELL
Ribosome – a Nucleolus – manufactures
complex molecule ribosomal RNA
that serves as the site
for protein synthesis
Nucleoplasm – contains
free nucleotides
Nuclear membrane -
double membrane
enclosing the nucleus Nucleus - carries
with pores (nuclear genetic material
pores)

Chromatin network – Cytoplasm – a jelly-like

network of genetic fluid in a cell where
material found in the most cellular reactions
nucleus during take place
interphase

NUCLEIC ACIDS
• Nucleic acids are organic molecules that are
made up of nucleotides and control the
synthesis of proteins

• There two types of nucleic acids;

– DNA (Deoxyribonucleic acid)
– RNA (Ribonucleic acid)

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 NUCLEOTIDES
• Nucleotides – are building blocks/monomers of
nucleic acids
• A nucleotide is made up of a phosphate ion, sugar
molecule and nitrogenous base
• Sugar molecule – can be deoxyribose (for DNA) and
ribose (for RNA)
Nitrogenous bases:
• Adenine (A), Guanine (G), cytosine (C), thymine (T)
and uracil (U)

DEOXYRIBONUCLEIC ACID (DNA)

Location of DNA
• DNA that is found in the nucleus is called Nuclear DNA
• DNA that is found outside the nucleus is called Extra-
nuclear DNA
Extra nuclear DNA :
o Chloroplastic DNA (found in chloroplast)
o Mitochondrial DNA/mtDNA (found in mitochondria)

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 DEOXYRIBONUCLEIC ACID (DNA)
The structure of DNA

• The natural shape of DNA is a double helix

• The sugar molecule in DNA is deoxyribose (A)
• The backbone of DNA structure is made up a
Sugar and Phosphate(B)
• In DNA the nitrogenous bases are paired
• The pair of nitrogenous bases in a DNA
molecule are held together by Weak hydrogen
bond (C)
• Therefore a DNA nucleotide (D) is made up of a
deoxyribose sugar, phosphate and a
nitrogenous base

Nucleotides

Phosphate

Nitrogenous
Base

Deoxyri
bose

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 DEOXYRIBONUCLEIC ACID (DNA)
Functions of DNA
• Carrying hereditary characteristics from parents to
their offspring
• Controls the synthesis (manufacturing) of proteins
• Acts as template for formation of mRNA

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- DNA molecule is a double helix.

-The two chains of nucleotides are held to one another by weak hydrogen bonds
between bases of the chains. – Nucleotide is made of a base, pentose sugar and
phosphate group.

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 RIBONUCLEIC ACID(RNA)
Types of RNA
• Ribosomal RNA (rRNA) – forms part of the structure
of the ribosome
• Messenger RNA (mRNA) – acts a messenger by
carrying the genetic code from DNA in the nucleus to
the ribosome in the cytoplasm to be used to
synthesize proteins
• Transfer RNA (tRNA) – picks up amino acids in the
cytoplasm and carries them to the ribosome during
protein synthesis

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 RIBONUCLEIC ACID(RNA)
Structure of mRNA

*this strand of mRNA is made of 4 codons

RIBONUCLEIC ACID(RNA)
Structure of tRNA

*this tRNA has a single anticodon and is carrying a

single amino acid

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 DNA Replication
• Double Helix unwinds to form a step ladder because
of enzyme action
• DNA polymerase controls DNA replication
• Weak hydrogen bonds between nitrogenous base
pairs break
• Two strands separate and move apart
• Free DNA nucleotides from nucleoplasm/nuclear sap
arrange themselves opposite each complementary
strand
• Two identical DNA molecules are produced from the
original

-Replication uses DNA polymerase enzyme which adds nucleotides to the

complementary DNA strands.
-DNA replication is a semi conservative process where the new DNA
molecule will be having an old strand and a new strand.

- DNA replication takes place during interphase.

DNA REPLICATION SUMMARY

1. DNA molecule unwinds.

2. Weak hydrogen bonds are broken.
3. The two strands/sugar phosphate backbones move apart/
open/separate.
4. Free DNA nucleotides are added by DNA polymerase and pair
up with complementary bases on the separated DNA strands.
5. Sugar phosphate backbone is formed.
6. New two DNA molecules which are identical to each are formed.

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 Semi-Conservative Model
▪ Replication of DNA
◆ base pairing allows
each strand to serve
as a template for a
new strand
◆ new strand is 1/2
parent template &
1/2 new DNA

AP Biology

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 DNA REPLICATION
• The process of making an identical copy of DNA
(chromosome)
• This increases the number of chromosomes so that
they can be shared between the cells resulting from
cell division
• Occurs within the nucleus
• Occurs before mitosis and meiosis, during interphase
• Interphase is the period between consecutive cell
divisions
• The process is controlled by enzymes

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 DNA REPLICATION – THE PROCESS
• DNA molecule unwinds
• Weak hydrogen bonds break/the DNA
strands unzip
• Each strand serves as a template
• Free DNA nucleotides from the
nucleoplasm attach to the template
strands
• they arrange according to the base
sequence of the DNA templates, in a
complementary way, A – T and C – G,
• Sugar-phosphate bonds form between
nucleotides to form two identical DNA
molecules
• This process is controlled by enzymes

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 DNA REPLICATION
Significance/importance of DNA replication
• Doubles genetic information so it can be shared
between the resulting daughter cells during cell
division
• Ensures that each daughter cell has identical DNA
composition to the mother cell
• Ensures that each daughter cell contains the same
number chromosomes as the mother cell

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 PROTEIN SYNTHESIS

Protein structure is determined by the genetic code in

your DNA. The section of DNA that codes for one
protein is called a
gene

A gene is a section of
DNA that determines
the sequenceof amino
acids in a protein.

Therefore, the gene

determines the shape
and therefore, the
function of the
protein it codes for.

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 PROTEIN SYNTHESIS

PROTEIN SYNTHESIS
TRANSCRIPTION (in the nucleus)
(1) DNA double helix unwinds, weak hydrogen bonds break
(unzip) forming two separate strands, (2) One strand acts as a
template to build the complementary strand (mRNA), Using free
RNA nucleotides from the nucleoplasm, they arrange according
to the base sequence of the DNA template, in a complementary
way, A – U and C – G, Sugar-phosphate bonds form between
nucleotides to form the required mRNA (3), Process controlled
by enzymes

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 PROTEIN SYNTHESIS
TRANSLATION (in the cytoplasm on the ribosome)
(5)- The mRNA strand from the nucleus becomes attached to a
ribosome with its codons exposed, (6)-each tRNA molecule
carrying a specific amino acid according to its anticodon,
matches up with the codon of the mRNA, so that the amino
acids are placed in the correct sequence, adjacent amino acids
are linked by peptide bonds to form a protein.

A tRNA molecule is a small piece of RNA that has a

specific amino acid attached to it.

The tRNA also has a

special sequence of 3
nucleotide bases known
as an anticodon.

There is at least one type of tRNA for each of the 20 amino

acids.

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 Steps in Translation
1. mRNA leaves the nucleus and migrates to ribosome
2. mRNA binds to small ribosomal subunit
3. tRNA brings an amino acid to the ribosome, where
anticodon on the tRNA binds to the complementary
codon of the mRNA
4. The amino acid bonds to its adjoining amino acid to
form a growing polypeptide molecule. Peptide bond is
formed between amino acids
5. The tRNA without the amino acid is released from the
ribosome
6. Other tRNA’s bring amino acids to the ribosome to
complete the protein molecule

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1. mRNA leaves the nucleus and
attaches to a ribosome

2. The tRNA molecule

with the correct
anticodon attaches
to the mRNA
codon.

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The Art of Protein Synthesis

This amazing artwork shows a process that takes place in the cells of all
living things: the production of proteins. This process is called protein
synthesis, and it actually consists of two processes — transcription and
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 translation. In eukaryotic cells, transcription takes place in the nucleus.
During transcription, DNA is used as a template to make a molecule of
messenger RNA (mRNA). The molecule of mRNA then leaves the nucleus
and goes to a ribosome in the cytoplasm, where translation occurs. During
translation, the genetic code in mRNA is read and used to make a protein.
These two processes are summed up by the central dogma of molecular
biology: DNA → RNA → Protein.

Transcription

Transcription is the first part of the central dogma of molecular

biology: DNA → RNA. It is the transfer of genetic instructions in DNA to
mRNA. During transcription, a strand of mRNA is made to complement a
strand of DNA.

Steps of Transcription

1. The enzyme RNA polymerase binds to a region of a gene. This signals

the DNA to unwind so the enzyme can “read” the bases in one of the DNA
strands. The enzyme is ready to make a strand of mRNA with a
complementary sequence of bases.
2. The addition of nucleotides to the mRNA strand.
3. is the ending of transcription. The mRNA strand is complete, and it
detaches from DNA.

Translation

Translation is the second part of the central dogma of molecular

biology: RNA → Protein. It is the process in which the genetic code in
mRNA is read to make a protein. Translation is illustrated in the
diagram below. After mRNA leaves the nucleus, it moves to a ribosome.
The ribosome reads the sequence of codons in mRNA, and molecules of
tRNA bring amino acids to the ribosome in the correct sequence.

To understand the role of tRNA, you need to know more about its structure.
Each tRNA molecule has an anticodon for the amino acid it carries.

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 An anticodon is complementary to the codon for an amino acid. For
example, the amino acid lysine has the codon AAG, so the anticodon is
UUC. Therefore, lysine would be carried by a tRNA molecule with the
anticodon UUC. Wherever the codon AAG appears in mRNA, a UUC
anticodon of tRNA temporarily binds. While bound to mRNA, tRNA gives up
its amino acid. With the help of rRNA, bonds form between the amino
acids as they are brought one by one to the ribosome, creating a
polypeptide chain. The chain of amino acids keeps growing until a stop
codon is reached.

Summary

• Protein synthesis is the process in which cells make proteins. It occurs in

two stages: transcription and translation.
• Transcription is the transfer of genetic instructions in DNA to mRNA in the
nucleus. It includes three steps: initiation, elongation, and termination.
After the mRNA is processed, it carries the instructions to a ribosome in
the cytoplasm.
• Translation occurs at the ribosome in the cytoplasm. In translation, the
instructions in mRNA are read, and tRNA brings the correct sequence of
amino acids to the ribosome. Then, ribosome cause peptide bond
formation between the amino acids, producing a polypeptide chain.
• After a polypeptide chain is synthesized, it may undergo additional
processing to form the finished protein.

MUTATION

A mutation is a change in a DNA sequence. Mutations can result from

DNA copying mistakes made during cell division, exposure to ionizing
radiation, exposure to chemicals called mutagens, or infection by viruses. a
mutation is an alteration in the nucleotide sequence of the genome.

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On rare occasions, however, the nucleotide sequence in DNA may be
modified either spontaneously (by errors during replication, occurring
approximately once for every 10 billion nucleotides) or from exposure to
heat, radiation, or certain chemicals. Any chemical or physical change that
alters the nucleotide sequence in DNA is called a mutation. When a
mutation occurs in an egg or sperm cell that then produces a living
organism, it will be inherited by all the offspring of that organism.

Common types of mutations include substitution (a different nucleotide is

substituted), insertion (the addition of a new nucleotide), and deletion (the
loss of a nucleotide). These changes within DNA are called point
mutations because only one nucleotide is substituted, added, or deleted.
Because an insertion or deletion results in a frame-shift that changes the
reading of subsequent codons and, therefore, alters the entire amino acid
sequence that follows the mutation, insertions and deletions are usually
more harmful than a substitution in which only a single amino acid is
altered.

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 DNA FINGER PRINTING/ DNA PROFILING

DNA PROFILING
• DNA profile is the unique pattern formed by the DNA
fragments of an individual.
• DNA profile is sometimes referred to as DNA fingerprint
but is not the same as fingerprints which appear on a
person’s hands.
• The DNA profile of people are not the same except for
identical twins
DNA profile can be made using DNA from:
o Body tissue
o Hair
o Body fluids such as blood, semen or saliva

DNA profiling (also called DNA fingerprinting) is the process of

determining an individual's DNA characteristics.

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Non-coding DNA is used in finger ‘printing’.Coding DNA about 2%[exon] is
the segment of DNA(gene) which codes for any protein. Non-coding DNA is
the Junk DNA(introns) about 98% which do not code for proteins and do
not have any known particular function. Samples of DNA obtained from
saliva,blood stains and semen at the scene is used to produce bands to be
compared with individual’s DNA.

CODING DNA (Exons)- is about 2% of the total DNA. It contains the genes which codes
for protein. It is the same in all the human beings.

NON CODING DNA (Introns) – is about 98% of the total DNA. Non-coding DNA is the
Junk DNA(introns) about 98% which do not code for proteins and do not have any
known particular function.

The non coding DNA varies from one individual to another except in identical twins. It is
the one which is identified as the DNA finger prints during the DNA profiling.

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 DNA PROFILING
Uses of DNA profiling
• To investigate crimes
• Paternity tests
• Determine identity of dead persons
• Determine genetic disorders
• Determine the probability or cause of genetic
disorders
• To establish matching tissues for organ transplant

• To determine paternity both parent’s DNA profiles are

compared to that of the child.
• First eliminate the DNA bands that belong to the mother from
the child’s DNA profile as it is already known she is the mother
• Then the remaining DNA bands must be compared to the
suspected/possible fathers
• In this case male 3 is the father since 3 DNA bands from his
DNA profile match with those found on the child’s DNA profile

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 DNA PROFILING
• If we are trying to prove paternity then the child’s
DNA profile will be compared with that of the
possible father(s).
• If most of the DNA bands of the possible father
match that of the child then that male is definitely
the father because the child inherited that genetic
material from him.

DNA PROFILING
Example: DNA profiling used to
solve a crime
• The crime scene DNA profile is
compared to all the DNA profiles
of the three suspects
• By comparing each DNA band to
the DNA bands from crime scene
profile it can be concluded that
Joe committed the crime
• This is because all of Joe’s DNA
bars are similar/match those in
the crime scene DNA profile

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 DNA PROFILING
Why DNA profiling may NOT be reliable
• Small segment of DNA is analysed
• Human error during DNA profiling process
• Suspect was framed by leaving DNA evidence at the
scene/swopping specimens at the lab
• The DNA evidence of the accused was at the scene
before the crime was committed
• Suspect had an identical twin who has the same DNA
profile

MEIOSIS

Meiosis (3.3)
IB Diploma Biology

Essential Idea: Meiosis produces

genetically-varied, haploid cells
needed for sexual reproduction

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 Meiosis
Cell division where nucleus divides
twice but chromosomes duplicates
once only resulting in four unidentical
cells each with half a number of
chromosomes.

Terminology
• Autosome-all chromosomes besides the sex
chromosomes
• Chiasma-the point at which the chromatids of
homologous chromosomes cross over during the
first prophase of meiosis
• Crossing over-a process that takes place in the 1st
prophase of meiosis involving the exchange of
genetic material between members of homologous
pair of chromosomes

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 Why do we need meiosis?
• The 23 pairs of chromosomes that result in a
zygote are divided as follows:
– 22 pairs of autosomes
– 1 pair of sex chromosomes called gonosomes
represented by:
• XX in females
• XY in males
• When there are two sets of chromosomes, the
nucleus is complete and is diploid (2n)
• When we refer to one set of chromosomes in
the gamete, it is called haploid (n)

Sexual reproduction in humans …

• At fertilization, 23 chromosomes
are donated by each parent.
(total = 46 or 23 pairs).

• Gametes (sperm/ova):
– Contain 22 autosomes and 1 sex
chromosome.
– Are haploid (haploid number “n” = 23
in humans).

• Fertilization results in diploid zygote.

– Diploid cell; 2n = 46. (n = 23 in humans)

• Q: Most cells in the body are produced through what type of cell division?
(Remember, only gametes are produced through meiosis)

Image: Superficial human anatomy, Mikael

Häggström& Rainer Zenz; Sperm & egg, Wikipedia From the Virtual Cell Biology Classroom on [Link]

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Organisms that reproduce Sexually are
made up of two different types of cells.
1. Somatic Cells are “body” cells and contain the
normal number of chromosomes ….called the
“Diploid” number (the symbol is 2n). Examples
would be … skin cells, brain cells, etc.

2. Gametes are the “sex” cells and contain only ½

the normal number of chromosomes…. called the
“Haploid” number (the symbol is n)….. Sperm
cells and ova are gametes.
n = number of chromosomes in the set… so….2n means 2
chromosomes in the set…. Polyploid cells have more than two
chromosomes per set… example: 3n (3 chromosomes per set)

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 Fertilization

• The fusion of a sperm and egg to form a zygote.

• A zygote is a fertilized egg

sperm
n=23 n=23
egg
2n=46
zygote

3.3.3 DNA is replicated before meiosis so that all chromosomes consist of

two sister chromatids
DNA is replicated during the Synthesis (S) phase of
Interphase, before Meiosis

As a result, the nucleus of the diploid cell undergoing

division contains duplicated chromosomes, each with
two identical ‘sister’ chromatids

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 Pair of chromosomes (maternal and
paternal) that are similar in shape and size.
 Homologous pairs (tetrads) carry GENES
controlling the SAME inherited traits.
 Each locus (position of a gene) is in the
same position on homologues. LOCI

 Humans have 23 pairs of homologous

chromosomes:
a. First 22 pairs of autosomes
b. Last pair of sex chromosomes

12

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Crossing over may occur between
non-sister chromatids at sites called
chiasmata.
Crossing over: segments of
nonsister chromatids break and
reattach to the other chromatid.
Chiasmata (chiasma) are where
chromosomes touch each other and
exchange genes (crossing over.)
Causes Genetic Recombination
14

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 Genetic Variation in Diploid Organisms

Fusion of sperm and egg results in unique

offspring…
…but not only because the young are a product
of two individuals with different genetic
makeup.
Meiosis also “shuffles” the genes so that the
an individual’s gametes are genetically
different from one another.

How is this shuffling accomplished?

From the Virtual Cell Biology Classroom on [Link] Image: Meiosis diagram, Marek Kultys

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 Crossing Over
• Homologues break at identical
locations, then rejoin opposite
partners.

• This creates new combinations

of the alleles on each
chromosome.

• Occurs randomly several times

on every chromosome.

• Results in mixing of the genes

you inherited from your
parents.
From the Virtual Cell Biology Classroom on [Link]

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3.3.6 Separation of pairs of homologous chromosomes in the first division of
meiosis halves the chromosome number.

The separation of homologous chromosome

pairs in Anaphase I (called disjunction), is
called the reduction division since it halves
the chromosome number of the nucleus.

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 Meiosis I
The first meiotic division is a reduction
division (diploid → haploid) in which homologous chromosomes
are separated
▪ P-I: Chromosomes condense, nuclear membrane dissolves,
homologous chromosomes form bivalents, crossing over occurs

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▪ M-I: Spindle fibres from opposing centrosomes connect to
bivalents (at centromeres) and align them along the middle of the
cell
▪ A-I: Spindle fibres contract and split the bivalent, homologous
chromosomes move to opposite poles of the cell
▪ T-I: Chromosomes decondense, nuclear membrane may reform,
cell divides (cytokinesis) to form two haploid daughter cells

Meiosis II
The second division separates sister chromatids (these
chromatids may not be identical due to crossing over in prophase
I)
▪ P-II: Chromosomes condense, nuclear membrane dissolves,
centrosomes move to opposite poles.
▪ M-II: Spindle fibres from opposing centrosomes attach to
chromosomes (at centromere) and align them along the cell
equator
▪ A-II: Spindle fibres contract and separate the sister chromatids,
chromatids (now called chromosomes) move to opposite poles
▪ T-II: Chromosomes decondense, nuclear membrane reforms,
cells divide (cytokinesis) to form four haploid daughter cells

The final outcome of meiosis is the production of four haploid

daughter cells
▪ These cells may all be genetically distinct if crossing over occurs
in prophase I (causes recombination of sister chromatids)

Meiosis consists of two divisions, both of which follow the

same stages as mitosis (prophase, metaphase, anaphase,
telophase)

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 ▪ Meiosis is preceded by interphase, in
which DNA is replicated to produce
chromosomes consisting of two sister
chromatids
▪ A second growth phase
called interkinesis may occur between
meiosis I and II, however no DNA
replication occurs in this stage

Meiosis – mouse testes

Parent cell
1st division

2nd division
4 gametes

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 Differences between mitosis & meiosis
Mitosis Meiosis
• Occurs to form somatic cells • Occurs to form sex cell/ gametes
• One nuclear division • Two nuclear divisions
• Resulting cells have the same • Resulting cells have half the
number of chromosomes as parent number of chromosomes as parent
cell cell
• Two genetically identical cells are • Four genetically unidentical cells
formed are formed
• Chromosomes not in pairs during • Chromosomes are in pairs during
prophase prophase 1
• No crossing over • Crossing over takes place in
• During metaphase chromosomes prophase 1
are split and chromatids are pulled • During metaphase whole
towards opposite poles chromosomes are pulled towards
opposite poles

Differences between meiosis 1& 2

Meiosis 1 Meiosis 2
• Chromosomes are double stranded • Chromosomes are single stranded
in all phases in all phases
• Crossing over takes place in • No crossing over in prophase 1
Prophase 1
• Chromosomes are arranged along • Chromosomes are arranged along
the equator in homologous pairs in the equator singly in metaphase 2
metaphase 1
• Whole chromosomes are pulled to • Chromatids are pulled to opposite
opposite poles in Anaphase 1 poles in Anaphase 2
• Chromosome number is halved in • Chromosome number does not
meiosis 1 change in meiosis 2
• Results in two cells • Results in 4 cells

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3.3.7 Crossing over and random orientation promotes genetic variation

Offspring of sexual reproduction are

always an unpredictable blend of the
characteristics of the two parents – much
of this randomness is due to Meiosis

Each gamete produced by a parent has a

different combination of alleles due to
two major features of Meiosis:

1. Crossing Over: Swapping of alleles

between homologous chromosomes
means infinite new combinations of
alleles can be created and passed
down to offspring

2. Random Orientation of Bivalents:

Which one chromosome of each
homologous pair that a gamete
receives is random based on their
orientation in Metaphase I.

Random Assortment of Homologous Chromosomes

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The advantage of meiotic division and sexual reproduction is that it
promotes genetic variation in offspring
The three main sources of genetic variation arising from sexual
reproduction are:
▪ Crossing over (in prophase I)
▪ Random assortment of chromosomes (in
metaphase I)
▪ Random fusion of gametes from
different parents

Crossing Over
Crossing over involves the exchange of segments of DNA
between homologous chromosomes during prophase I

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 ▪ The exchange of genetic material
occurs between non-sister chromatids at
points called chiasmata

As a consequence of this recombination, all four chromatids that

comprise the bivalent will be genetically different
▪ Chromatids that consist of a
combination of DNA derived from both
homologous chromosomes are
called recombinants
▪ Offspring with recombinant
chromosomes will have unique gene
combinations that are not present in
either parent

Random Orientation
When homologous chromosomes line up in metaphase I, their
orientation towards the opposing poles is random
The orientation of each bivalent occurs independently, meaning
different combinations of maternal / paternal chromosomes can
be inherited when bivalents separate in anaphase I

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3.3.8 Fusion of gametes from different parents promotes genetic variation

The fusion of a male and female gamete to form a zygote results in a mixture
of alleles that has likely never existed before…

Crossing over and random assortment of bivalents in meiosis in both parents

results in essentially-infinite possibilities for the combination of alleles that
each one will pass to their offspring through their gamete

Thus, genetic similarities to parents are maintained while also promoting

important genetic variation within a species (key to survival and evolution!)

Random Fertilisation
The fusion of two haploid gametes results in the formation of a
diploid zygote
▪ This zygote can then divide by mitosis
and differentiate to form a developing
embryo

As meiosis results in genetically distinct gametes, random

fertilisation by egg and sperm will always generate different
zygotes
▪ Identical twins are
formed after fertilisation, by the
complete fission of the zygote into two
separate cell masses

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A female has an
XX
genotype. A male has an
XY
genotype.
-
When two parents create an offspring, there is always a 50%
chance of the offspring being a
girl and 50% chance of the offspring being a boy.
-
Here is a
Punnett square
showing that shows this.
Dad (XY)
Mom (XX)

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 How is Sex Determined in Humans?

sperm
• Sex is determined by
X Y
the sex chromosome
carried by the sperm.
X
XX XY
• What sex egg
chromosome is
X XX XY
carried by the egg?
girls boys

24

SRY (Sex- Determining Region of the

Y chromosome) Gene
• Early in development, the
immature gonads of males and
females are indistinguishable. SRY
gene
• Males: In the 7th week of
development, the SRY gene on
the Y chromosome activates a
number of genes, and the
gonads develop as testes. Y

• Females: With no SRY gene,

gonads develop as ovaries by
default.
X
30

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 Sex Determination
• In mammals, males have one X and one
Y chromosome.
• In males, half the daughter cells formed
by Meiosis I get an X chromosome and
half get a Y chromosome.
• Following Meiosis II and sperm
differentiation, half the sperm are X-
bearing and half are Y-bearing.

23

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CHROMOSOMAL MUTATIONS

Down Syndrome
Individuals with Down syndrome have three copies of
chromosome 21 (trisomy 21)
▪ One of the parental gametes had two
copies of chromosome 21 as a result of
non-disjunction
▪ The other parental gamete was normal
and had a single copy of chromosome
21
▪ When the two gametes fused during
fertilisation, the resulting zygote had
three copies of chromosome 21

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Application:
• Studies showing age of parents influences chances of non-
disjunction

Studies show that the chances of non-disjunction increase as the

age of the parents increase
▪ There is a particularly strong correlation
between maternal age and the
occurrence of non-disjunction events
▪ This may be due to developing oocytes
being arrested in prophase I until
ovulation as part of the process of
oogenesis

Other studies also suggest that:

▪ The risk of chromosomal abnormalities
in offspring increase significantly after a
maternal age of 30.
▪ There is a higher incidence of
chromosomal errors in offspring as a
result of non-disjunction in meiosis I.
▪ Mean maternal age is increasing,
leading to an increase in the number of
Down syndrome offspring.

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 • Down's syndrome is
caused by the presence
of three copies of the
21st chromosome.
• This chromosomal
defect is known as
Trisomy-21.
• Down's syndrome
almost always results in
mental retardation,
though the severity of
the retardation varies.

Characteristics of Down syndrome

Epicanthic/skin
fold
Small, upwardly
slanting eyes
Flattened, nasal bridge

Open mouth
Protruding tongue
Broad neck Small underdeveloped
• Hearing loss ears set low on head
• Heart defects
• Decreased Muscle tone
• Mental retardation

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