Vedant Rastogi

Name: ………………………………………………………………

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Glossary

the transmission of genetic information from generation to generation

a thread-like structure of DNA, carrying genetic information in the form of genes

a length of DNA that codes for a protein

a version of a gene

a type of RNA which is synthesised using a gene as a template

the sex chromosome present in human males

the sex chromosome, 1 present in human males, 2 in human females

the organelle which assembles amino acids in the correct order to synthesise a protein

the process which uses a gene as a template to produce mRNA

the process by which a ribosome synthesises proteins

genes can be switch off or on according to whether or not the cell needs specific proteins made

a nucleus containing a single set of unpaired chromosomes, e.g. in gametes

as a nucleus containing two sets of chromosomes, e.g. in body cells

the genetic make-up of an organism in terms of the alleles present

the observable features of an organism

having two identical alleles of a particular gene

when two identical homozygous individuals that breed together

having two different alleles of a particular gene

an allele that is expressed if it is present

an allele that is only expressed when there is no dominant allele of the gene present

a diagram to show the inheritance of a given characteristic

a diagram to predict the results of monohybrid crosses eg a Punnett square

used to determine an unknown genotype: crossing the unknown with a homozygous recessive individual
for the trait
when alleles are not dominate or recessive, but are expressed together and both their phenotypes are
expressed eg A and B blood group alleles
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 eg colour blindness
concerns the inheritance of a single characteristic eg eye shape

a change in the base sequence of DNA, creating a new allele

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 allele genetic diagram mRNA sex-linked characteristic
chromosome genotype mutation test cross
co-dominance haploid nucleus pedigree diagram transcription
diploid nucleus heterozygous phenotype translation
dominant homozygous pure-breeding X chromosome
gene inheritance recessive Y chromosome
gene expression monohybrid cross ribosomes

DNA STRUCTURE RECAP

Can you fill in the missing nucleotide letters in the diagrams below? What is the rule that allows you to figure
it out?

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17.1 Inheritance: What is DNA?

DNA molecules are called chromosomes

Our bodies are made up of trillions of cells, each containing a nucleus.

The cell nucleus is the most important organelle, and it’s here that we find our DNA (deoxyribonucleic acid) packaged up
tightly into structures called chromosomes. Chromosomes are long thread-like structures made of a
DNA molecule and protein. During cell division, chromosomes coil up tightly into X shapes and are more easily visible
under a microscope. Human cells have 23 pairs of chromosomes (46 total), while our gametes have 23 chromosomes.

DNA, chromosomes and cells

To fit into cells, the DNA double helix molecules are wrapped up around special
proteins that help them coil up into chromosomes. In eukaryotic cells, chromosomes
are found in the nucleus. Mitochondria and chloroplasts also contain DNA.

DNA is organised into genes

Each chromosome is made up of one DNA molecule, but what does a

DNA molecule actually look like and how does it store information?

A DNA molecule is made up of a series of nucleotides arranged in 2 strands that

resemble a ladder and twist to form a double helix.

Nucleotides are made up of a base, a sugar and a phosphate. The 4 bases – adenine
(A), guanine (G), cytosine (C) and thymine (T) – pair with each other (A with T and G
with C).

It is the sequence of these base pairs that provides the ‘genetic code’ needed for
protein synthesis: the proteins needed for growth and metabolism eg making
enzymes, antibodies and receptors.

One gene is a length of DNA that codes for one

protein. Different proteins would be coded for
by different genes.

If DNA mutates (which means there has been a

change in the sequence of nucleotides), an
alternative form of the gene can form. We call
this an allele.

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The above is a karyogram: stained human chromosomes from a diploid cell. Is this from a male or female person?

____________

How do you know?

__________________________________________________________________________________________________

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Gene expression

It has been discovered that the characteristics that a cell or organism possesses depend on the proteins that the cell
can manufacture.

For cells to specialise in the many different ways that they do, they must make different proteins. The instructions as to
which proteins should be manufactured at any one time in a cell are found as genes on the chromosomes. Therefore,
you can say “the DNA controls the cell function by controlling the production of proteins”. Almost all of the cells in our
bodies (except for gametes) contain the same DNA, but not all the genes are expressed in each cell – cells are
specialized, meaning that each one only expresses the genes that code for proteins it needs. In other words, DNA
controls the cell function by controlling the production of proteins – including e.g. enzymes, membrane carriers, and
receptors for neurotransmitters.

Passing the messages to the ribosomes

This coded message in the genes is located on the chromosomes, in the nucleus. Remember ribosomes as the protein-
manufacturing stations? These are found outside the nucleus, in the cytoplasm. How does the code pass from the
nucleus to the ribosomes in the cytoplasm? It is carried by another type of nucleic acid, called messenger RNA (mRNA).

Transcription and Translation

The mRNA is made by a process called transcription, which literally means ‘cross writing’. The gene base sequence is
copied from DNA into mRNA, using very similar base pairing rules to those used in the making of DNA. There is one
important difference – RNA never contains the base thymine (T). Thymine is replaced by a fifth base called uracil (U) so
instead of the base pair A-T used in DNA replication, in transcription we have the base pair A-U.

Once it has been made, the mRNA leaves the nucleus and travels to the ribosomes. As it passes through the ribosome,
the ribosome reads the sequence of its nucleotides and translates this specific sequence of nucleotides into a specific
sequence of amino acids. There are many different amino acids with different properties, so their arrangement in
different sequences will determine the shape, and therefore functions, of different proteins.

Deciding whether a gene is expressed or not is a highly specific and complex process. It is regulated by cues from within
and outside the cells and results in the incredible diversity of cells we see in our bodies. For example, the gene that
codes for insulin is only expressed in pancreatic cells, not in the other cells in your body, even though the genes are
present in those other cells as well.

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A summary of gene expression:

Fill in the missing words:

DNA DNA
TRANS___________ TRANS__________ PROTEIN
_________: nucleotides: _
A, T, G, C _________ ______________

State the role of:

mRNA:

Ribosomes:

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 The DNA code

The Alphabet

ABCDEFGHIJK
LMNOP
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A haploid nucleus vs a diploid nucleus

Define haploid (N): …………………………………………………………………………………………………………………………………………………………….

Define diploid (2N): …………………………………………………………………………………………………………………………………………………………..

How many pairs of chromosomes are in a human body cell? …………….. pairs of each ………………….

Explain what would happen if the gametes were not haploid

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Homologous Chromosomes – one came from dad, one from mum

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

A pair of chromosomes originates one from each parent. They are the same length and they have the same genes in the
same positions. The only difference between them is that the genes can differ slightly. A different version of a gene is
called an allele.

Alleles come about because of m_______________.

Draw three lines to join the word ‘Mutation’ to the words in the boxes to make three correct sentences:

Look at the pair of homologous chromosomes to the right

How many different genes are there? …………………………

How many different alleles are there? …………………………..

Possible Alleles
Can you fill in some more in the table?

Gene Possible Alleles

Eye colour Brown, Green, Blue etc
Tongue rolling Can roll, Can’t roll
Nose Shape Pointed, flat, long, short etc
Hair texture
Lobe of ear

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Pair up the terms with their definitions:

GENOTYPE the genetic make-up of an organism and in terms of the alleles present

PHENOTYPE the observable features of an organism

HOMOZYGOUS having two identical alleles of a particular gene

HETEROZYGOUS having two different alleles of a particular gene

PURE-BREEDING two identical homozygous individuals that breed together

NOT PURE-BREEDING heterozygous individual

DOMINANT ALLELE an allele that is expressed if it is present in the genotype

an allele that is only expressed when there is no dominant allele of the gene
RECESSIVE ALLELE
present in the genotype

Genetic notation: Learn these by heart!

Type Explanation Example

Dominant allele = allele that is expressed if present
P = purple flower
• upper case letter
Normal p = white flower
Recessive allele = allele that is expressed only when
monohybrid cross T = tall plant
there is no dominant allele present
t = dwarf plant
• same letter but lower case
Both alleles present in a heterozygous organism
C = flower colour
contribute to the phenotype.
CW = white flowers
Codominant alleles • choose a suitable upper-case letter, then
CR = red flowers
choose another upper-case letter for each
CR CW = pink flowers
allele and write it in superscript
More than two alleles of a particular gene exist.
The Gene is written first, and each allele has a symbol
I = gene for blood type
as for normal monohybrid
i = blood type O allele
Multiple alleles • the recessive allele is written as a lower-case
IA = blood type A allele
letter
IB = blood type B allele
• the dominant versions (upper-case letter)
often follow codominant expression rules
Sex linkage (red-
XB = normal colour vision
green colour
Sex linked alleles are present on the X chromosome. Xb = colour blindness
blindness)
So each allele is represented by an upper-case X with
a suitable upper case (if a dominant allele) or lower-
Sex linkage case (if a recessive allele) letter in superscript XH = normal clotting factor
(haemophilia) Xh = haemophilia

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Inheritance and Genes
Use the following words to fill in the blanks:

maternal; heterozygous; homozygous dominant; homozygous recessive; locus; homologous; paternal; alleles

heterozygous

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 Let T stand for tongue-rolling.

Tongue-rolling is a dominant trait.

Can these people with the following genotypes roll their tongue?

Genotype Description Phenotype (circle the correct answer)

Genotype
(Circle one of the three) Can they roll their tongue?
1. homozygous recessive
Tongue roller
TT 2. homozygous dominant
Not a tongue roller
3. heterozygous
1. homozygous recessive
Tongue roller
Tt 2. homozygous dominant
Not a tongue roller
3. heterozygous
1. homozygous recessive
Tongue roller
tt 2. homozygous dominant
Not a tongue roller
3. heterozygous

Watch the following video about how Mendel figured out how traits are passed from parents to offspring

https://youtu.be/Mehz7tCxjSE

Gender inheritance:

Mother Father
XX XY
What are the chances of the child to be a
X X gametes X Y boy or a girl?

____________________________________
x Text ____________________________________
____________________________________
____________________________________

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 Bb Bb

B b B B

BB Bb bb bb

Blue Blue Blue White

3 (75%) 1 (25%)

B b

B BB Bb

b bb bb

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mucus is difficult to cough out

difficult for cilia to move it out

bacteria or pathagens trapped in it

bacteria or pathogens in warm or moist environments

reproduce

An Allele that only has its effect in absense or dominant alleles

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13. a. Aya and her father Sydney are colour blind, but her mother, Alisha, has normal vision. What is Aya’s genotype?

A. homozygous for the dominant, normal vision allele

B. heterozygous, carrier of the red-green color blind allele
C. homozygous recessive for the red-green color blind allele

Show “Aya” on a Punnett Square:

b. We have determined that Aya is homozygous recessive for the red-green colour blind allele and that her father has the recessive
allele. What is the mother's genotype? Remember that Aya’s mother does not have a colour perception defect.

A. homozygous for the dominant, normal vision allele

B. heterozygous carrier of the red-green color blind allele
C. homozygous recessive for the red-green color blind allele

c. What is the genotype of Aya’s sister Shirley, who has normal vision?

A. homozygous for the dominant, normal vision allele

B. heterozygous carrier of the red-green color blind allele
C. homozygous recessive for the red-green color blind allele
D. cannot be determined from the information given

d. Jan Yun and Jason, Aya’s brothers have not been tested. What is the possibility that they will have colour blindness?

A. 25%
B. 50%
C. 100%

e. We don't know if any of Aya’s grandparents were red-green colour blind, but we can make some educated guesses. Is it possible
that all of Aya’s grandparents have normal vision?

A. Yes
B. No

f. What is the probability that Aya’s sons will be colour blind?

A. 25%
B. 50%
C. 75%
D. 100%

g. What is the probability that Aya’s daughters will be colour blind?

A. 0% if the father has normal vision, and 100% if the father is red-green color blind.
B. 50% if the father has normal vision, and 100% if the father is red-green color blind.
C. 50% if the father has normal vision, and 50% if the father is red-green color blind.
D. 25% if the father has normal vision, and 100% if the father is red-green color blind.

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