3.1 2 3 - Genetics

GENETICS
Copyright © 2005 Pearson Education, Inc. publishing as Benjamin Cummings

• Genes
– Are heritable factors that consists of a length
of DNA and influence a specific characteristic
– Each species has a specific number of genes.
– We have less genes than other plant or animal

species (23000 genes)
– Genes are located on chromosomes  the
specific position of a gene is called locus
OMIM: online database to identify the locus of a
human gene and its product
Copyright © 2005 Pearson Education, Inc. publishing as Benjamin Cummings Allott, Andrew, and David Mindorff. Biology: Oxford IB Diploma Programme. 2014 ed. N.p..
• Alleles
– Are alternative forms of the same gene
– It is possible to have more than 2 alleles per

gene (ABO blood groups)
– Diploid cells have two copies of the same
chromosome  two copies of the same gene
 two alleles (they can be different or the
same)
– Different alleles of a gene have slight
variations in the base sequence.
• Alleles
– Single nucleotide polymorphisms SNPs
– New alleles are formed from other alleles by

gene mutation
• Mutations
– Gene mutation = random change in the sequence of
a gene
– The most significant mutation  base substitution
– Mutations can be neutral, harmful or beneficial
– If they are harmful they can cause the death of the

cell
– Mutations in somatic cells will be eliminated when
the individual dies (they can cause cancer)
• Mutations
– Mutations in gametes can be passed on to

offspring and cause genetic disease
– Sickle cell anemia: mutation of the gene for haemoglobin
occurs in an egg or a sperm and it is inherited by the
offspring. The mutation causes an aa substitution (glutamic
acid  valine)  sickle shape of red blood cells.
Sickle red blood cells can be trapped in blood capillaries;

they have a shorter life (4 days)  the body can not
replace them rapidly  anemia. Individuals can have
both the alleles mutated or only one copy.
• Genome:
Genome the whole of the genetic information
of an organism in humans 46 chromosomes +
DNA in mitochondria.
• In prokaryotes: genome is made of a circular
chromosome + plasmids
• One of the greatest achievements of modern
science has been the sequencing of the human
genome, which was largely completed by 2003
• A large part of the genome is not transcribed
• The vast majority of base sequences are shared
by all humans
• Comparison of genomes of different species
evolutionary history of living organisms.
DNA sequencing
https://www.youtube.com/watch?v=nudG0r9zL2M
Gel electrophoresis
https://www.youtube.com/watch?v=vq759wKCCUQ
PCR
https://www.youtube.com/watch?v=0HCWmD7Mv8U
https://www.youtube.com/watch?v=iQsu3Kz9NYo
• Dideoxy chain-termination method for DNA Primer Deoxyribonucleotides Dideoxyribonucleotides
sequencing DNA
(template strand) T 3 (fluorescently tagged)
G
5 C T dATP ddATP
T T 5
G dCTP ddCTP
APPLICATION The sequence of nucleotides in any cloned DNA A
C DNA dTTP ddTTP
fragment up to about 800 base pairs in length can T polymerase
T dGTP ddGTP
be determined rapidly with specialized machines C
G
that carry out sequencing reactions and separate A P P P
G
P P P
G
the labeled reaction products by length. C
A
3 OH H
TECHNIQUE This method synthesizes a nested set of DNA strands A
complementary to the original DNA fragment. Each DNA (template Labeled strands 3
strand starts with the same primer and ends with a 5 C ddG
strand) ddA A
T
dideoxyribonucleotide (ddNTP), a modified G ddC C C
ddT T T T
nucleotide. Incorporation of a ddNTP terminates a A
C ddG G G G G
growing DNA strand because it lacks a 3’—OH group, T
ddA
ddA A
A
A
A
A
A
A A
A
T A A
the site for attachment of the next nucleotide (see C ddG G G G G G G G
C C C C C C C C
Figure 16.12). In the set of strands synthesized, each G
A
ddC
T T T T T T T T
T
nucleotide position along the original sequence is C G
G
T
G
T
G G
T
G
T
G G G
T
A T T T
T
represented by strands ending at that point with the 3 A T
T T T T T T T T
complementary ddNT. Because each type of ddNTP
Direction
is tagged with a distinct fluorescent label, the identity of movement
of the ending nucleotides of the new strands, and of strands
ultimately the entire original sequence, can be
determined.
RESULTS The color of the fluorescent tag on each strand indicates

Laser Detector
the identity of the nucleotide at its end. The results can
be printed out as a spectrogram, and the sequence,
which is complementary to the template strand, can then G
be read from bottom to top. (Notice that the sequence A
C
here begins after the primer.) T
G
A
A
G
Figure 20.12 C

CHROMOSOMES
© The Human Genome Project:

Biocomputing Admin Ed Yung
© 2007 Paul Billiet ODWS

Chromosomes in eukaryotes and
prokaryotes are different
PROKARYOTES EUKARYOTES
single chromosome + plasmids many chromosomes
circular chromosome linear chromosomes
made only of DNA (naked DNA) made of chromatin (DNA coiled
around histone proteins)
found in cytoplasm found in a nucleus

One copy of each gene Two copies of each gene
© 2007 Paul Billiet ODWS Allott, Andrew, and David Mindorff. Biology: Oxford IB Diploma Programme. 2014 ed. N.p..
Plasmids
 Found in prokaryotes
 Small, circular and naked
 Useful but not essential genes (antibiotic
resistance)
 There may be multiple copies
 Sometimes they are not passed to both
the cells formed by cell division
 They can be transferred from a cell to
another (also between different species)
Plasmids
 A new technique, autoradiography, from 1940
was used to determine the length of
chromosomes and to demonstrate the single
chromosome in prokaryotes.
Chromosomes
in eukaryotes
 Found in the nucleus

Image believed to be in the Public Domain
 DNA is associated with histones
http://edoc.hu-berlin.de/dissertationen/seitz-stefanie-2004-10-20/HTML/chapter1.html
 DNA appears as a string of beads during

interphase
Chromosomes
in eukaryotes
 Condensed and visible at the light

microscope during cell division (mitosis or
meiosis)
 At the beginning of mitosis they can be
seen to consist of two threads (sister
chromatids) joined by a centromere
 The sister chromatids are identical copies
 During mitosis the sister chromatids
separate and are placed into two nuclei
Homologous chromosomes
 Homologous chromosomes:
chromosomes with the same
sequence of genes
 They are not identical because for
some genes there are different
alleles
Haploid and diploid nuclei
 Haploid cell has one copy of each
chromosome  in humans: 23
chromosomes
 Gametes are haploid cells
 Diploid cell has two chromosomes
of each type  in humans: 46
chromosomes
 Somatic cells are diploid cells
Numbers of chromosomes
 Constant for each cell in the body (except
sex cells which only have half sets).
 Constant throughout the life of an
individual (you don’t lose or gain
chromosomes)
 Constant for all members of a species
 In human beings: 46
 The number of chromosomes can change
during the evolution of a species
Mouse
Maize
© A. Lane Rayburn

Organism Chromosome
numbers
Human 46
Chimpanzee 48
House Mouse 40
Maize 20

Human chromosomes
© 2007 Paul Billiet ODWS Image believed to be in the Public Domain

Identifying chromosomes
Chromosomes can be identified by:

 Their size
 Their shape (the position of the

centromere)
NB Chromosomes are flexible
 Banding patterns produced by
specific stains (Giemsa)
© Biologyreference.com
Chromosomes are analysed by organising them into a

KARYOTYPE (the number and type of chromosomes of an
organism). KARYOGRAM is the image of these chromosomes
Female Male
Images believed to be in the Public Domain
Development and chromosomes
 Differences in chromosomes are associated
with difference in the way we grow.
 The karyotypes of males and females are not

the same
- Females have two large X chromosomes
- Males have a large X and a small Y
chromosome
- The X and the Y chromosomes are called sex
chromosomes
- The sex chromosomes are placed at the end
of the karyotype

Sex chromosomes
 The sex of many animals is
determined by genes on
chromosomes called sex
chromosomes
 The other chromosomes are called
autosomes
 One sex is homogametic
 The other sex is heterogametic
Sex chromosomes
 The x chromosome has many genes in both
males and females
 The y chromosome has a small number of
genes  a part of them are the same genes
found on the x; a part is only present on the y.
 TDF (testis determining factor) gene on the Y
causes a fetus to develop as a male
 The sex of an individual is determined by the
sperm
The inheritance of gender
Is it going to be a boy or a girl?
© University of New Mexico

The inheritance of gender
Mother Father
XX XY
Meiosis
Sex cells X X X Y
X Y
Fertilisation X XX XY Possible
children
X XX XY
Chance of a girl 50%

Chance of a boy 50%
Chromosomal abnormalities
Trysomy-21  Down’s syndrome
Images believed to be in the Public Domain

Down’s syndrome

Therefore genetic information is
found on our chromosomes

Questions
1. Sickle cell anemia is a genetic disease:
a- caused by a single base substitution
b- caused by many base substitutions
2. Is it possible that a plant has a higher number of

genes of human beings?
3. What is the genome?

a- the total number of genes of a species
b- the total amount of DNA of a species
Questions
4. What is the Human genome project?
a- The project whose aim was to find the base
sequence of the entire human genome
b- The project whose aim was to find the precise
number of the genes of human beings
5. Autoradiography was used…

a- to determine the weight of chromosomes
b- to determine the length of chromosomes
Questions
6. Which is the longest genome:
a- Human beings genome
b- T2 phage genome
c- Woodland plant genome
7. Does a chimpanzee have the same number of

chromosomes of Homo sapiens?
8. How many chromosomes does a dog have?

a-38
b-78
Questions
9. What is a kayogram?
a- the number and type of chromosomes of an
organism
B- the image of the chromosomes of an organism
10. Why do scientists use karyograms?

Chromosomes and cell division
 Multicellular organisms
copy their chromosomes
before cell division. Interphase
 They must grow to a
mature size.
 The nucleus divides,
distributing the
chromosomes into two equal
groups (mitosis).
 The cytoplasm then divides
(cytokinesis) each part
taking a nucleus.
The cell cycle
Cytokinesis Some cells may
Division of the cytoplasm stay in this stage
G0 for over a year
M
G1 First growth phase.

Varies in length
G2
Second growth
phase
S Copying of
chromosomes
G1 + S + G2 = INTERPHASE
Chromosomes and reproduction
 Chromosomes come in pairs
One of the pair is maternal the
other is paternal
 When parents produce sex cells the

number of chromosomes must be
halved  One of each type of
chromosome is taken

Meiosis and fertilisation
Mother Father
23 pairs of 23 pairs of
chromosomes chromosomes
Meiosis
Sex cells
23 unpaired 23 unpaired 23 unpaired 23 unpaired

chromosomes chromosomes chromosomes chromosomes
Fertilisation
23 pairs of
chromosomes
Child
© 2007 Paul Billiet ODWS Images believed to be in the Public Domain

Nature of science  Meiosis
 In 19th century scientists discovered
meiosis.
 Chromosomes were stained and observed
with microscopes.
 Scientists observed that egg and sperm
cells of horse threadworm contained 2 ch
instead of 4 ch of fertilized cell.
 The sequence of events in meiosis was
obtained observing cells from ovaries of
rabbits where meiosis occurs over many
days.
Meiosis
 A special type of cell division
 Used to make sex cells
 Meiosis halves the numbers of
chromosomes
 Meiosis picks one chromosome from
each pair at random and places
them in a sex cell. This results in
enormous variation amongst the
sex cells.

Meiosis
 Takes place in two sets of divisions,
meiosis I and meiosis II
 It is a reduction division producing
haploid cells
Allott, Andrew, and David Mindorff. Biology: Oxford IB Diploma Programme. 2014 ed. N.p..
Comparison of Asexual and Sexual Reproduction
• In asexual reproduction
– One parent produces genetically identical
offspring by mitosis
https://www.youtube.com/watch?v=DY9DNWcqxI4

• In sexual reproduction
– Two parents give rise to offspring that have
unique combinations of genes inherited from
the two parents
• A life cycle
– Is the generation-to-generation sequence of
stages in the reproductive history of an
organism
• The human life cycle
Key
Haploid gametes (n = 23)
Haploid (n)
Ovum (n)
Diploid (2n)
Sperm
Cell (n)
MEIOSIS FERTILIZATION
Ovary Testis Diploid

zygote
(2n = 46)
Mitosis and
development
Multicellular diploid
Figure 13.5 adults (2n = 46)
Behavior of Chromosome Sets in the Human Life Cycle
• At sexual maturity
– The ovaries and testes produce haploid
gametes by meiosis
• During fertilization
– These gametes, sperm and ovum, fuse, forming
a diploid zygote (fertilization doubles the number
of chromosomes)
• The zygote develops into an adult organism
• Before meiosis DNA is replicated:
– All the chromosomes are duplicated and thus
each consists of two identical sister chromatids
Key
Maternal set of
chromosomes (n = 3)
2n = 6
Paternal set of
chromosomes (n = 3)
Two sister chromatids

of one replicated
chromosome
Centromere
Two nonsister Pair of homologous

chromatids in chromosomes
a homologous pair
Figure 13.4 (one from each set)

The Stages of Meiosis
• An overview of meiosis Interphase
Homologous pair
of chromosomes
in diploid parent cell
Chromosomes
replicate
Homologous pair of replicated chromosomes
Sister
chromatids Diploid cell with
replicated
chromosomes
Meiosis I
1 Homologous
chromosomes
separate
Haploid cells with

replicated chromosomes
Meiosis II
2 Sister chromatids
separate
Haploid cells with unreplicated chromosomes

Figure 13.7
In meiosis I
Crossing over:
–Homologous chromosomes pair up with each other
–A pair of homologous chromosomes: bivalent
–Pairing process: synapsis
–Homologous chromosomes physically connect and

exchange genetic information
–One chromatid in each of the homologous breaks and
rejoins with the other chromatid
– Mutual exchange of genes between the
chromatids  chromatids with new
combination of genes are produced
– Random event
– At least one crossing over in each pair
MEIOSIS
https://www.youtube.com/watch?v=HS49w3SYkNg
https://www.youtube.com/watch?v=rqPMp0U0HOA
• Interphase and meiosis I
INTERPHASE MEIOSIS I: Separates homologous chromosomes
PROPHASE I METAPHASE I ANAPHASE I
Centrosomes Centromere Sister chromatids

(with centriole pairs) (with kinetochore) remain attached
Chiasmata Metaphase
Sister
chromatids plate
Spindle
Nuclear
Microtubule Homologous
envelope
Tetrad attached to chromosomes
Chromatin separate
kinetochore
Chromosomes duplicate Pairs of homologous
Homologous chromosomes Pairs of homologous chromosomes split up
(red and blue) pair and exchange chromosomes line up
segments; 2n = 6 in this example

• Telophase I, cytokinesis, and meiosis II
MEIOSIS II: Separates sister chromatids
TELOPHASE I AND PROPHASE II METAPHASE II ANAPHASE II TELOPHASE II AND
CYTOKINESIS CYTOKINESIS
Cleavage Haploid daughter cells

furrow Sister chromatids forming
separate
Two haploid cells

form; chromosomes During another round of cell division, the sister chromatids finally separate;
are still double four haploid daughter cells result, containing single chromosomes

• Spindle microtubules and chromosomes in
meiosis:
- Each chromosome is attached to one pole only
- The two homologous chromosomes are

attached to different poles
- Orientation of bivalent (pair) is random
- The orientation of one bivalent does not affect

other bivalent
• Halving the chromosome number:
- In meiosis I there is the separation of the

homologous chromosomes (disjunction)  the
first two doughter cells contain one
chromosome of each pair.
- Meiosis I halves the number of chromosomes
- In meiosis II the sister chromatids are

separated.
• Meiosis is the source of genetic variation due to:
- Random orientation of bivalents
- Crossing over (linked genes can be reshuffled to

produce new combinations)
- Example: Gene A  alleles A and a. Gene B 
alleles B and b. Alleles A and B are on the same
chromosome: without crossing over the
combination of the two different alleles AB would
be forever linked together).
Genetic variation is essential for evolution!!
• Random orientation of bivalents (independent assortment)
• Each pair of chromosomes sorts its maternal and paternal homologues into
daughter cells independently of the other pairs
Key
Maternal set of
chromosomes
Possibility 1 Possibility 2
Paternal set of
chromosomes
Two equally probable

arrangements of
chromosomes at
metaphase I
Metaphase II
Daughter
cells
Figure 13.10 Combination 1 Combination 2 Combination 3 Combination 4

Crossing Over
• Crossing over
– Produces recombinant chromosomes that carry genes derived
from two different parents
Prophase I Nonsister
of meiosis chromatids
Tetrad
Chiasma,
site of
crossing
over
Metaphase I
Metaphase II
Daughter
cells
Recombinant
Figure 13.11 chromosomes
• A comparison of mitosis and meiosis
MITOSIS MEIOSIS
Parent cell Chiasma (site of
MEIOSIS I
(before chromosome replication) crossing over)
Prophase Prophase I
Chromosome Chromosome
replication replication Tetrad formed by
Duplicated chromosome 2n = 6 synapsis of homologous
(two sister chromatids) chromosomes
Chromosomes Tetrads
positioned at the positioned at the Metaphase I
Metaphase
metaphase plate metaphase plate
Anaphase Sister chromatids Homologues

separate during separate Anaphase I
Telophase
anaphase during Telophase I
anaphase I;
sister Haploid
chromatids Daughter n=3
remain together cells of
meiosis I
2n 2n
Daughter cells MEIOSIS II
of mitosis
n n n n
Daughter cells of meiosis II
Sister chromatids separate during anaphase II
Figure 13.9
https://www.youtube.com/watch?v=2z4XFGgvkkg
Meiosis process brings to the formation of
gametes (egg and sperm cells), the haploid
cells.
The fusion of a sperm cell with an egg cell brings

to the formation of a zygote (diploid cell).

3.1 2 3 - Genetics

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GENETICS

Copyright © 2005 Pearson Education, Inc. publishing as Benjamin Cummings

– We have less genes than other plant or animal

– It is possible to have more than 2 alleles per

– New alleles are formed from other alleles by

– Mutations can be neutral, harmful or beneficial

– If they are harmful they can cause the death of the

– Mutations in gametes can be passed on to

Sickle red blood cells can be trapped in blood capillaries;

RESULTS The color of the fluorescent tag on each strand indicates

Copyright © 2005 Pearson Education, Inc. publishing as Benjamin Cummings

© The Human Genome Project:

© 2007 Paul Billiet ODWS

found in cytoplasm found in a nucleus

 Found in the nucleus

 DNA is associated with histones

 DNA appears as a string of beads during

 Condensed and visible at the light

© 2007 Paul Billiet ODWS

© 2007 Paul Billiet ODWS

© 2007 Paul Billiet ODWS Image believed to be in the Public Domain

Chromosomes can be identified by:

 Their shape (the position of the

Chromosomes are analysed by organising them into a

 The karyotypes of males and females are not

© 2007 Paul Billiet ODWS

Is it going to be a boy or a girl?

© University of New Mexico

Chance of a girl 50%

Trysomy-21  Down’s syndrome

Images believed to be in the Public Domain

Image believed to be in the Public Domain

© 2007 Paul Billiet ODWS

2. Is it possible that a plant has a higher number of

3. What is the genome?

5. Autoradiography was used…

7. Does a chimpanzee have the same number of

8. How many chromosomes does a dog have?

10. Why do scientists use karyograms?

G1 First growth phase.

 When parents produce sex cells the

© 2007 Paul Billiet ODWS

23 unpaired 23 unpaired 23 unpaired 23 unpaired

© 2007 Paul Billiet ODWS Images believed to be in the Public Domain

© 2007 Paul Billiet ODWS

Copyright © 2005 Pearson Education, Inc. publishing as Benjamin Cummings

Ovary Testis Diploid

• The zygote develops into an adult organism

Two sister chromatids

Two nonsister Pair of homologous

Copyright © 2005 Pearson Education, Inc. publishing as Benjamin Cummings

Homologous pair of replicated chromosomes

Haploid cells with

Haploid cells with unreplicated chromosomes

–A pair of homologous chromosomes: bivalent

–Pairing process: synapsis

–Homologous chromosomes physically connect and

– At least one crossing over in each pair

PROPHASE I METAPHASE I ANAPHASE I

Centrosomes Centromere Sister chromatids

Copyright © 2005 Pearson Education, Inc. publishing as Benjamin Cummings

Cleavage Haploid daughter cells

Two haploid cells